(used for variant description)
(last modified November 16, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005984.3 in the SLC25A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering SLC25A1 transcript NM_005984.3.
(upstream sequence)
. . . g.5032
ctggctcggaccacgcggggcgggacctggag c.-121
. . . . . . g.5092
ctgacgcggccgccccgcccctgggaccataaccggccgccgccgccaccgcggaccgag c.-61
. . . . . . g.5152
cgcggagttctggagtctcggacccgaagccgccacagggcgccccgcctcccgcccgcc c.-1
. . . . . . g.5212
ATGCCCGCGCCCCGCGCCCCGCGCGCTCTGGCGGCCGCCGCGCCCGCGTCCGGGAAGGCC c.60
M P A P R A P R A L A A A A P A S G K A p.20
. . . | 02 . . . g.5611
AAGCTGACGCACCCGGGGAAGGCGATCCTGGCAG | GCGGCCTGGCGGGTGGCATCGAGATC c.120
K L T H P G K A I L A G | G L A G G I E I p.40
. . . . . . g.5671
TGCATCACCTTCCCCACCGAGTACGTGAAGACGCAGCTGCAGCTGGACGAGCGCTCGCAC c.180
C I T F P T E Y V K T Q L Q L D E R S H p.60
. . | 03 . . . . g.5822
CCGCCGCGGTACCGGGGCATCG | GGGACTGCGTGCGGCAGACGGTTCGCAGCCATGGCGTC c.240
P P R Y R G I G | D C V R Q T V R S H G V p.80
. . . . . . g.5882
CTGGGCCTGTACCGCGGCCTTAGCTCCCTGCTCTACGGTTCCATCCCCAAGGCGGCCGTC c.300
L G L Y R G L S S L L Y G S I P K A A V p.100
| 04 . . . . . . g.6018
AG | GTTTGGAATGTTCGAGTTCCTCAGCAACCACATGCGGGATGCCCAGGGACGGCTGGAC c.360
R | F G M F E F L S N H M R D A Q G R L D p.120
. . . . . . g.6078
AGCACGCGTGGGCTGCTGTGCGGCCTGGGCGCTGGCGTGGCCGAGGCCGTGGTGGTCGTG c.420
S T R G L L C G L G A G V A E A V V V V p.140
. . | 05 . . . . g.6660
TGCCCCATGGAGACCATCAAG | GTGAAGTTCATCCACGACCAGACCTCCCCAAACCCCAAG c.480
C P M E T I K | V K F I H D Q T S P N P K p.160
. . . . | 06 . . g.6889
TACAGAGGATTCTTCCACGGGGTTAGGGAGATTGTGCGGGAACAAG | GGCTGAAGGGGACG c.540
Y R G F F H G V R E I V R E Q G | L K G T p.180
. . . . . . g.6949
TACCAGGGCCTCACAGCCACTGTCCTGAAGCAGGGCTCGAACCAGGCCATCCGCTTCTTC c.600
Y Q G L T A T V L K Q G S N Q A I R F F p.200
. . . | 07 . . . g.7161
GTCATGACCTCCCTGCGCAACTGGTACCGAG | GGGACAACCCCAACAAGCCCATGAACCCT c.660
V M T S L R N W Y R G | D N P N K P M N P p.220
. . . . . . g.7221
CTGATCACTGGGGTCTTCGGAGCTATTGCAGGCGCAGCCAGTGTCTTTGGAAACACTCCT c.720
L I T G V F G A I A G A A S V F G N T P p.240
. . | 08. . . . g.7364
CTGGATGTGATTAAGACCCGGATGCAG | GGCCTGGAGGCGCACAAATACCGGAACACGTGG c.780
L D V I K T R M Q | G L E A H K Y R N T W p.260
. . . . | 09 . . g.7600
GACTGCGGCTTGCAGATCCTGAAGAAGGAGGGGCTCAAGGC | ATTCTACAAGGGCACTGTC c.840
D C G L Q I L K K E G L K A | F Y K G T V p.280
. . . . . . g.7660
CCCCGCCTGGGCCGGGTCTGCCTGGATGTGGCCATAGTGTTTGTCATCTATGATGAAGTG c.900
P R L G R V C L D V A I V F V I Y D E V p.300
. . . g.7696
GTGAAGCTGCTCAACAAAGTGTGGAAGACGGACTAA c.936
V K L L N K V W K T D X p.311
. . . . . . g.7756
gcctagagaggccgcaaggggaccgccccaggcaccgccagagtgtcctgctacctttgt c.*60
. . . . . . g.7816
ctcacgattccagtgcagtagtgccaaaaggccccttcccacgtccctcgagctctgtag c.*120
. . . . . . g.7876
cctggtctgtgcattgtggctgtcaaatccatgtgtcccccctgtggtctgtgtgtgaca c.*180
. . . . . . g.7936
ccaccactgtgtcccagtgtctggcccagccatggctggatgtgcatctggcctatgacc c.*240
. . . . . . g.7996
ctgtgcctgtgtttcatgttctgtgtcacgtgaccctgtgccccgcctcccggggtgccc c.*300
. . . . . . g.8056
gtgtggcctgggtcctcggccctgtagccctggcccggtcccagtccggtgccttccacc c.*360
. . . . . . g.8116
ctgccctggcctaccacagctgcctccgggcctcggcctggcttcaccgcattccagggg c.*420
. . . . . . g.8176
ctgcagccccctgcttctcccgccattggccttaactggccctcgggccctctctccgcc c.*480
. . . . . . g.8236
ccggacagggtggcacccaccactctcaggaccaccctgccaaggcagaataaaccggat c.*540
. g.8251
cctgttgcagcctcc c.*555
(downstream sequence)
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