Canonical Allele Identifier: CA467304809
Gene: SPTAN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.131394465G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128632186G>C , CM000671.2:g.128632186G>C GRCh38
NC_000009.11:g.131394465G>C , CM000671.1:g.131394465G>C GRCh37
NC_000009.10:g.130434286G>C NCBI36
NG_027748.1:g.84629G>C
NG_034056.1:g.29665C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000627441.3:c.6858G>C ENSP00000486547.2:p.Gly2286=
ENST00000630866.2:c.6885G>C ENSP00000487444.1:p.Gly2295=
ENST00000704202.1:c.6909G>C ENSP00000515764.1:p.Gly2303=
ENST00000704203.1:c.6858G>C ENSP00000515765.1:p.Gly2286=
ENST00000704204.1:c.6348G>C ENSP00000515766.1:p.Gly2116=
ENST00000704206.1:c.4427G>C
ENST00000704207.1:c.2764G>C
ENST00000706487.1:c.6822G>C ENSP00000516412.1:p.Gly2274=
ENST00000372739.7:c.6822G>C MANE Select ENSP00000361824.4:p.Gly2274=
ENST00000636010.1:n.546G>C
ENST00000358161.9:c.6747G>C ENSP00000350882.6:p.Gly2249=
ENST00000372731.8:c.6807G>C ENSP00000361816.4:p.Gly2269=
ENST00000372739.5:c.6822G>C ENSP00000361824.3:p.Gly2274=
ENST00000625980.2:n.776G>C
ENST00000630763.1:n.579G>C
ENST00000630804.2:c.6762G>C ENSP00000486308.1:p.Gly2254=
ENST00000630866.1:c.6885G>C ENSP00000487444.1:p.Gly2295=
NM_001130438.2:c.6822G>C NP_001123910.1:p.Gly2274=
NM_001195532.1:c.6747G>C NP_001182461.1:p.Gly2249=
NM_003127.3:c.6807G>C NP_003118.2:p.Gly2269=
XM_006717245.1:c.6921G>C XP_006717308.1:p.Gly2307=
XM_006717246.1:c.6906G>C XP_006717309.1:p.Gly2302=
XM_006717247.1:c.6861G>C XP_006717310.1:p.Gly2287=
XM_006717248.1:c.6858G>C XP_006717311.1:p.Gly2286=
XM_006717249.1:c.6843G>C XP_006717312.1:p.Gly2281=
XM_006717250.1:c.6840G>C XP_006717313.1:p.Gly2280=
XM_006717251.1:c.6825G>C XP_006717314.1:p.Gly2275=
XM_006717252.1:c.6798G>C XP_006717315.1:p.Gly2266=
XM_006717253.1:c.6783G>C XP_006717316.1:p.Gly2261=
XM_006717254.1:c.6885G>C XP_006717317.1:p.Gly2295=
NM_001363759.1:c.6885G>C NP_001350688.1:p.Gly2295=
NM_001363765.1:c.6762G>C NP_001350694.1:p.Gly2254=
XM_006717247.2:c.6861G>C XP_006717310.1:p.Gly2287=
XM_006717248.2:c.6858G>C XP_006717311.1:p.Gly2286=
XM_006717251.2:c.6825G>C XP_006717314.1:p.Gly2275=
XM_006717252.3:c.6798G>C XP_006717315.1:p.Gly2266=
XM_017015059.1:c.6804G>C XP_016870548.1:p.Gly2268=
XM_017015060.1:c.6780G>C XP_016870549.1:p.Gly2260=
NM_001130438.3:c.6822G>C MANE Select NP_001123910.1:p.Gly2274=
NM_001195532.2:c.6747G>C NP_001182461.1:p.Gly2249=
NM_001363759.2:c.6885G>C NP_001350688.1:p.Gly2295=
NM_001363765.2:c.6762G>C NP_001350694.1:p.Gly2254=
NM_001375310.1:c.6909G>C NP_001362239.1:p.Gly2303=
NM_001375311.2:c.6822G>C NP_001362240.1:p.Gly2274=
NM_001375312.2:c.6858G>C NP_001362241.2:p.Gly2286=
NM_001375313.1:c.6804G>C NP_001362242.1:p.Gly2268=
NM_001375314.2:c.6762G>C NP_001362243.1:p.Gly2254=
NM_001375318.1:c.6921G>C NP_001362247.1:p.Gly2307=
NM_003127.4:c.6807G>C NP_003118.2:p.Gly2269=