(used for variant description)
(last modified November 10, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_021971.2 in the GMPPB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering GMPPB transcript NM_021971.2.
(upstream sequence)
g.4985
actgcccg c.-241
. . . . . . g.5045
cgccgggtccggcctgagttcggggccagcagccgtctacccggtgtcgcgttctgtgtt c.-181
. . . . . . g.5105
gtggcggccctggatccggcgtcagggcgaccgggcggacgaggtggagccagagtctgt c.-121
. . . . . . g.5165
caggcgggttggtgaagggcgcggggccgggcacggcgttgggagtgcgcggcagggacc c.-61
. . . . . . g.5225
ggccaggcgggctgcaggcacctcagagcccgggacaccccctcaacgtccgcaggcgcg c.-1
. . . . . . g.5285
ATGAAGGCACTGATCTTAGTGGGGGGCTATGGGACGCGGCTACGGCCGCTGACGCTGAGC c.60
M K A L I L V G G Y G T R L R P L T L S p.20
. . . . . . g.5345
ACCCCGAAGCCACTGGTGGACTTCTGCAATAAGCCCATCTTGCTGCACCAAGTGGAGGCG c.120
T P K P L V D F C N K P I L L H Q V E A p.40
| 02 . . . . . g.5530
CTAGCCGCG | GCAGGCGTGGACCACGTGATCCTGGCCGTGAGCTACATGTCGCAGGTGCTG c.180
L A A | A G V D H V I L A V S Y M S Q V L p.60
. . . | 03 . . . g.5679
GAGAAGGAAATGAAGGCACAGGAGCAGAGG | CTGGGAATCCGAATCTCCATGTCCCATGAA c.240
E K E M K A Q E Q R | L G I R I S M S H E p.80
. | 04 . . . . g.5878
GAGGAGCCTTTGGGGACAG | CTGGGCCCCTGGCGCTGGCCCGTGACCTACTCTCTGAGACT c.300
E E P L G T A | G P L A L A R D L L S E T p.100
. . . . . . g.5938
GCAGACCCTTTCTTCGTCCTCAACAGTGACGTGATCTGCGATTTCCCCTTCCAAGCCATG c.360
A D P F F V L N S D V I C D F P F Q A M p.120
. . . . | 05 . . g.6215
GTGCAGTTCCACCGGCACCATGGCCAGGAGGGCTCCATCCTG | GTGACCAAGGTGGAGGAA c.420
V Q F H R H H G Q E G S I L | V T K V E E p.140
. . . . . . g.6275
CCCTCCAAGTACGGTGTGGTGGTGTGTGAGGCTGACACAGGCCGCATTCACCGGTTCGTG c.480
P S K Y G V V V C E A D T G R I H R F V p.160
. . . . . . g.6335
GAGAAGCCACAGGTGTTTGTGTCCAATAAGATCAACGCAGGCATGTACATCCTGAGCCCT c.540
E K P Q V F V S N K I N A G M Y I L S P p.180
. . | 06 . . . . g.6480
GCAGTGCTGCAGCGCATCCAG | CTGCAGCCTACGTCCATTGAGAAGGAGGTCTTCCCCATT c.600
A V L Q R I Q | L Q P T S I E K E V F P I p.200
. . . . | 07 . . g.6613
ATGGCCAAGGAGGGGCAGCTATATGCCATGGAGTTACAGG | GCTTCTGGATGGACATTGGG c.660
M A K E G Q L Y A M E L Q G | F W M D I G p.220
. . . . . . g.6673
CAGCCCAAGGACTTCCTCACTGGCATGTGCCTCTTCCTGCAGTCACTGAGGCAGAAGCAG c.720
Q P K D F L T G M C L F L Q S L R Q K Q p.240
. . . . | 08 . g.6816
CCTGAGCGGCTGTGCTCAGGCCCTGGCATTGTGGGCAACGTGCTGGTG | GACCCAAGTGCC c.780
P E R L C S G P G I V G N V L V | D P S A p.260
. . . . . . g.6876
CGCATCGGCCAGAACTGCAGCATTGGCCCCAATGTGAGCCTGGGACCTGGCGTGGTGGTC c.840
R I G Q N C S I G P N V S L G P G V V V p.280
. . . . . . g.6936
GAAGATGGTGTGTGTATCCGGCGGTGCACGGTGCTGCGGGATGCCCGGATCCGTTCCCAT c.900
E D G V C I R R C T V L R D A R I R S H p.300
. . . . . | 09 . g.7077
TCCTGGCTTGAGTCCTGCATTGTGGGCTGGCGCTGCCGCGTGGGTCAGTGG | GTACGCATG c.960
S W L E S C I V G W R C R V G Q W | V R M p.320
. . . . . . g.7137
GAGAACGTGACAGTGCTGGGTGAGGACGTCATAGTTAATGATGAGCTCTACCTCAACGGA c.1020
E N V T V L G E D V I V N D E L Y L N G p.340
. . . . . . g.7197
GCCAGCGTGCTGCCCCACAAGTCTATTGGCGAGTCAGTGCCAGAGCCTCGTATCATCATG c.1080
A S V L P H K S I G E S V P E P R I I M p.360
g.7200
TGA c.1083
X p.360
. . . . . . g.7260
ggggatgcagtggggctggccgagccccggttttcccatcagcaaggggagtgctggcct c.*60
. . . . . . g.7320
gacacatcagaagaccctggacttgtcattatttgtctggggggcactgggtgaagctga c.*120
. . . . . . g.7380
agctgttggacacctgccttctcatgtggacatcatctggcaggatccctgctgggcaca c.*180
. . . . . . g.7440
ccccacaaaccccactccctcaagaagggccagggccagggctgtatggaataataattt c.*240
. . . g.7476
aatgctcactgtggccctgactgaaagtcaagctca c.*276
(downstream sequence)
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