(used for variant description)
(last modified May 24, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000738.2 in the CHRM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering CHRM1 transcript NM_000738.2.
(upstream sequence)
. . . . g.5041
tggggctcaaattgggtgccctggtgaaggaggggggcaca c.-361
. . . . . . g.5101
ctccagaacctagtccaaccccagacgctgcctgaggcttccctccagctcccctccctt c.-301
. . . . . . g.5161
ccttttctccctttcctccctccctctctttccctttctccctccccgctaaggctggcg c.-241
. . . . . . g.5221
tgccagggggtgggacatgccaatcactggctgtgcctctcccgctgccagcacagggcg c.-181
. . . . . . g.5281
cagctccccctgggagccaggtgtttgggtccctggagacgccgcaggcccccagggagg c.-121
. . . . . | 02 . g.15380
cagtggggctgaggaccctacagacccctcttcagccccgtg | gtgatgactttcccctga c.-61
. . . . . . g.15440
ggaagccctgtagcgtgcctggaggaaggggctctccaaccccagccccacctagccacc c.-1
. . . . . . g.15500
ATGAACACTTCAGCCCCACCTGCTGTCAGCCCCAACATCACCGTCCTGGCACCAGGAAAG c.60
M N T S A P P A V S P N I T V L A P G K p.20
. . . . . . g.15560
GGTCCCTGGCAAGTGGCCTTCATTGGGATCACCACGGGCCTCCTGTCGCTAGCCACAGTG c.120
G P W Q V A F I G I T T G L L S L A T V p.40
. . . . . . g.15620
ACAGGCAACCTGCTGGTACTCATCTCTTTCAAGGTCAACACGGAGCTCAAGACAGTCAAT c.180
T G N L L V L I S F K V N T E L K T V N p.60
. . . . . . g.15680
AACTACTTCCTGCTGAGCCTGGCCTGTGCTGACCTCATCATCGGTACCTTCTCCATGAAC c.240
N Y F L L S L A C A D L I I G T F S M N p.80
. . . . . . g.15740
CTCTATACCACGTACCTGCTCATGGGCCACTGGGCTCTGGGCACGCTGGCTTGTGACCTC c.300
L Y T T Y L L M G H W A L G T L A C D L p.100
. . . . . . g.15800
TGGCTGGCCCTGGACTATGTGGCCAGCAATGCCTCCGTCATGAATCTGCTGCTCATCAGC c.360
W L A L D Y V A S N A S V M N L L L I S p.120
. . . . . . g.15860
TTTGACCGCTACTTCTCCGTGACTCGGCCCCTGAGCTACCGTGCCAAGCGCACACCCCGC c.420
F D R Y F S V T R P L S Y R A K R T P R p.140
. . . . . . g.15920
CGGGCAGCTCTGATGATCGGCCTGGCCTGGCTGGTTTCCTTTGTGCTCTGGGCCCCAGCC c.480
R A A L M I G L A W L V S F V L W A P A p.160
. . . . . . g.15980
ATCCTCTTCTGGCAGTACCTGGTAGGGGAGCGGACAGTGCTAGCTGGGCAGTGCTACATC c.540
I L F W Q Y L V G E R T V L A G Q C Y I p.180
. . . . . . g.16040
CAGTTCCTCTCCCAGCCCATCATCACCTTTGGCACAGCCATGGCTGCCTTCTACCTCCCT c.600
Q F L S Q P I I T F G T A M A A F Y L P p.200
. . . . . . g.16100
GTCACAGTCATGTGCACGCTCTACTGGCGCATCTACCGGGAGACAGAGAACCGAGCACGG c.660
V T V M C T L Y W R I Y R E T E N R A R p.220
. . . . . . g.16160
GAGCTGGCAGCCCTTCAGGGCTCCGAGACGCCAGGCAAAGGGGGTGGCAGCAGCAGCAGC c.720
E L A A L Q G S E T P G K G G G S S S S p.240
. . . . . . g.16220
TCAGAGAGGTCTCAGCCAGGGGCTGAGGGCTCACCAGAGACTCCTCCAGGCCGCTGCTGT c.780
S E R S Q P G A E G S P E T P P G R C C p.260
. . . . . . g.16280
CGCTGCTGCCGGGCCCCCAGGCTGCTGCAGGCCTACAGCTGGAAGGAAGAAGAGGAAGAG c.840
R C C R A P R L L Q A Y S W K E E E E E p.280
. . . . . . g.16340
GACGAAGGCTCCATGGAGTCCCTCACATCCTCAGAGGGAGAGGAGCCTGGCTCCGAAGTG c.900
D E G S M E S L T S S E G E E P G S E V p.300
. . . . . . g.16400
GTGATCAAGATGCCAATGGTGGACCCCGAGGCACAGGCCCCCACCAAGCAGCCCCCACGG c.960
V I K M P M V D P E A Q A P T K Q P P R p.320
. . . . . . g.16460
AGCTCCCCAAATACAGTCAAGAGGCCGACTAAGAAAGGGCGTGATCGAGCTGGCAAGGGC c.1020
S S P N T V K R P T K K G R D R A G K G p.340
. . . . . . g.16520
CAGAAGCCCCGTGGAAAGGAGCAGCTGGCCAAGCGGAAGACCTTCTCGCTGGTCAAGGAG c.1080
Q K P R G K E Q L A K R K T F S L V K E p.360
. . . . . . g.16580
AAGAAGGCGGCTCGGACCCTGAGTGCCATCCTCCTGGCCTTCATCCTCACCTGGACACCG c.1140
K K A A R T L S A I L L A F I L T W T P p.380
. . . . . . g.16640
TACAACATCATGGTGCTGGTGTCCACCTTCTGCAAGGACTGTGTTCCCGAGACCCTGTGG c.1200
Y N I M V L V S T F C K D C V P E T L W p.400
. . . . . . g.16700
GAGCTGGGCTACTGGCTGTGCTACGTCAACAGCACCATCAACCCCATGTGCTACGCACTC c.1260
E L G Y W L C Y V N S T I N P M C Y A L p.420
. . . . . . g.16760
TGCAACAAAGCCTTCCGGGACACCTTTCGCCTGCTGCTGCTTTGCCGCTGGGACAAGAGA c.1320
C N K A F R D T F R L L L L C R W D K R p.440
. . . . . . g.16820
CGCTGGCGCAAGATCCCCAAGCGCCCTGGCTCCGTGCACCGCACTCCCTCCCGCCAATGC c.1380
R W R K I P K R P G S V H R T P S R Q C p.460
g.16823
TGA c.1383
X p.460
. . . . . . g.16883
tagtcccctctcctgcatccctccaccccagtccccgggaaaggccggtgggaagagggc c.*60
. . . . . . g.16943
aggggctgcatcctcagccccagggccctgctcaggcctcacctggcttcccaggaccct c.*120
. . . . . . g.17003
gggtcaccttcctgggcagcccagagagaccctgccaactttccagacttcgctattccc c.*180
. . . . . . g.17063
aggcagggagggaaacccggggaactggtttttctgttccctgctgggtgggaatgcgct c.*240
. . . . . . g.17123
cttcaccaggaagaaggcccgggaggaggatccgggctttggactccttgtttgccttta c.*300
. . . . . . g.17183
ggcaggaagtcaggagccagcagggcgggccaggagaaagaaggcttaacattaagtatt c.*360
. . . . . . g.17243
ccttggcccagcagcggcccagattgcggtgtgagatggtgccccctggggggcacagcc c.*420
. . . . . . g.17303
agaaactgaactggccgctgggagaaaagccagatgacagggagctggggaatcccctcg c.*480
. . . . . . g.17363
cttcataggcagagcccgcccacctgggccctaggcatactctccaggattgtccacaaa c.*540
. . . . . . g.17423
tgtcctcagagggtccctaggtgggtcaactccaaggcaaatgtccaagcatcagcaaga c.*600
. . . . . . g.17483
caatgacactggaagggtccggcttggctagtcacatatcaagtcccgaggcagcaacag c.*660
. . . . . . g.17543
gaccaggagccaggtgtcctgactgtcctacaatatcattttcctgggagtgggagtcaa c.*720
. . . . . . g.17603
gtgtgcctgctatccagccgcaaatccataccccctgccccagagaagcctcagtccctc c.*780
. . . . . . g.17663
cctcctggctcacagccaccacctggatggatctgctccatgcagatctagccaggcctc c.*840
. . . . . . g.17723
ccgcatgctgcctgcctccggccctgccccacacaggcctggcccagccagcaggttctc c.*900
. . . . . . g.17783
tcctgtgagctccccaatccaacccatgcatggcctcccagccacccggatctccaggcc c.*960
. . . . . . g.17843
cagcctggccccaaatgttctttcctttcatcctcagcaagtgctgagtctgtgaataaa c.*1020
. g.17862
gccacataaccagcgggca c.*1039
(downstream sequence)
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