(used for variant description)
(last modified November 17, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000231.2 in the SGCG gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008759.1, covering SGCG transcript NM_000231.2. Some transcripts contain an alternatively splice exon 01b (probably non-coding)
(upstream sequence)
. . . g.5035
gaaactcgtgagagccctttctccagggacagttg c.-121
. . . . . . g.5095
ctgaagcttcatcctttgctctcattctgtaagtcatagaaaagtttgaaacattctgtc c.-61
. . . . . . g.5155
tgtggtagagctcgggccagctgtagttcattcgccagtgtgcttttcttaatatctaag c.-1
| 02 . . . . . . g.27834
| ATGGTGCGTGAGCAGTACACTACAGCCACAGAAGGCATCTGCATAGAGAGGCCAGAGAAT c.60
| M V R E Q Y T T A T E G I C I E R P E N p.20
^ intron contains alternatively spliced exon 01b
. . . . . . g.27894
CAGTATGTCTACAAAATTGGCATTTATGGCTGGAGAAAGCGCTGTCTCTACTTGTTTGTT c.120
Q Y V Y K I G I Y G W R K R C L Y L F V p.40
. . . . . . g.27954
CTTCTTTTACTCATCATCCTCGTTGTGAATTTAGCTCTTACAATTTGGATTCTTAAAGTG c.180
L L L L I I L V V N L A L T I W I L K V p.60
. | 03 . . . . . g.58735
ATGTGGTTTTCTCCA | GCAGGAATGGGCCACTTGTGTGTAACAAAAGATGGACTGCGCTTG c.240
M W F S P | A G M G H L C V T K D G L R L p.80
. . . . . | 04. g.74712
GAAGGGGAATCAGAATTTTTATTCCCATTGTATGCCAAAGAAATACACTCCAGAGTG | GAC c.300
E G E S E F L F P L Y A K E I H S R V | D p.100
. . . . . . g.74772
TCATCTCTGCTTCTACAATCAACCCAGAATGTGACTGTAAATGCGCGCAACTCAGAAGGG c.360
S S L L L Q S T Q N V T V N A R N S E G p.120
. . | 05 . . . . g.103473
GAGGTCACAGGCAGGTTAAAAGTCG | GTCCCAAAATGGTAGAAGTCCAGAATCAACAGTTT c.420
E V T G R L K V G | P K M V E V Q N Q Q F p.140
. . . . . . g.103533
CAGATCAACTCCAACGACGGCAAGCCACTATTTACTGTAGATGAGAAGGAAGTTGTGGTT c.480
Q I N S N D G K P L F T V D E K E V V V p.160
. . | 06 . . . . g.119529
GGTACAGATAAACTTCGAGTAACTG | GGCCTGAAGGGGCTCTTTTTGAACATTCAGTGGAG c.540
G T D K L R V T G | P E G A L F E H S V E p.180
. . . | 07 . . g.144738
ACACCCCTTGTCAGAGCCGACCCGTTTCAAGACCTTAG | ATTAGAATCCCCCACTCGGAGT c.600
T P L V R A D P F Q D L R | L E S P T R S p.200
. . . . . . g.144798
CTAAGCATGGATGCCCCAAGGGGTGTGCATATTCAAGCTCACGCTGGGAAAATTGAGGCG c.660
L S M D A P R G V H I Q A H A G K I E A p.220
. . . . | 08 . . g.148465
CTTTCTCAAATGGATATTCTTTTTCATAGTAGTGATGGAATG | CTTGTGCTTGATGCTGAA c.720
L S Q M D I L F H S S D G M | L V L D A E p.240
. . . . . . g.148525
ACTGTGTGCTTACCCAAGCTGGTGCAGGGGACGTGGGGTCCCTCTGGCAGCTCACAGAGC c.780
T V C L P K L V Q G T W G P S G S S Q S p.260
. . . . . . g.148585
CTCTACGAAATCTGTGTGTGTCCAGATGGGAAGCTGTACCTGTCTGTGGCCGGTGTGAGC c.840
L Y E I C V C P D G K L Y L S V A G V S p.280
. . . g.148621
ACCACGTGCCAGGAGCACAACCACATCTGCCTCTGA c.876
T T C Q E H N H I C L X p.291
. . . . . . g.148681
gctgcctgcgtcctctcggtgagctgtgcagtgccggccccagatcctcacacccaggga c.*60
. . . . . . g.148741
gcagctgcacatcgtgaaagactgaggcagcgtggatgggaagtaaacgcttccagagga c.*120
. . . . . . g.148801
actcagaaaaaattatgtgccagtgaaagtgtttggacaaaaactacatgatctcaaaat c.*180
. . . . . . g.148861
gcacgtggatgtgagacacaaaagttgacaaaatggaaaagcaatgtgtttttccactgg c.*240
. . . . . . g.148921
attaattttcaccggaacaattgcgaattctctctgcctcgcctccccctatcttgtccg c.*300
. . . . . . g.148981
tgtgggcacacactgagtgttgagttgccgtgtggagttaatgtatgacgctccactgtg c.*360
. . . . . . g.149041
gatatctaatgccctgttgagagtagccttgctcagtactaaaatgccccaaagttctat c.*420
. . . . . . g.149101
acagcatttcctttatagcattcaaacctcacatcctcccttcagtttaatgcaagtaag c.*480
. . . . . . g.149161
tcaggtttcacaagaaaattttcaagttttgaagggaatttgaggttgatctggttttca c.*540
. . . . . . g.149221
agatgtagttaaaggaataaatcactcaaaattaaactttctgtatatagtcaataagca c.*600
. . g.149245
ataaaaacctcatttttcagagtt c.*624
(downstream sequence)
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