Canonical Allele Identifier: CA375098558

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394542A>G (hg19) ; chr9:g.128632263A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632263A>G , CM000671.2:g.128632263A>G	GRCh38
NC_000009.11:g.131394542A>G , CM000671.1:g.131394542A>G	GRCh37
NC_000009.10:g.130434363A>G	NCBI36
NG_027748.1:g.84706A>G
NG_034056.1:g.29588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6935A>G	ENSP00000486547.2:p.Asp2312Gly
ENST00000630866.2:c.6962A>G	ENSP00000487444.1:p.Asp2321Gly
ENST00000704202.1:c.6986A>G	ENSP00000515764.1:p.Asp2329Gly
ENST00000704203.1:c.6935A>G	ENSP00000515765.1:p.Asp2312Gly
ENST00000704204.1:c.6425A>G	ENSP00000515766.1:p.Asp2142Gly
ENST00000704206.1:c.4504A>G
ENST00000704207.1:c.2841A>G
ENST00000706487.1:c.6899A>G	ENSP00000516412.1:p.Asp2300Gly
ENST00000372739.7:c.6899A>G MANE Select	ENSP00000361824.4:p.Asp2300Gly
ENST00000636010.1:n.623A>G
ENST00000358161.9:c.6824A>G	ENSP00000350882.6:p.Asp2275Gly
ENST00000372731.8:c.6884A>G	ENSP00000361816.4:p.Asp2295Gly
ENST00000372739.5:c.6899A>G	ENSP00000361824.3:p.Asp2300Gly
ENST00000625980.2:n.853A>G
ENST00000630763.1:n.656A>G
ENST00000630804.2:c.6839A>G	ENSP00000486308.1:p.Asp2280Gly
ENST00000630866.1:c.6962A>G	ENSP00000487444.1:p.Asp2321Gly
NM_001130438.2:c.6899A>G	NP_001123910.1:p.Asp2300Gly
NM_001195532.1:c.6824A>G	NP_001182461.1:p.Asp2275Gly
NM_003127.3:c.6884A>G	NP_003118.2:p.Asp2295Gly
XM_006717245.1:c.6998A>G	XP_006717308.1:p.Asp2333Gly
XM_006717246.1:c.6983A>G	XP_006717309.1:p.Asp2328Gly
XM_006717247.1:c.6938A>G	XP_006717310.1:p.Asp2313Gly
XM_006717248.1:c.6935A>G	XP_006717311.1:p.Asp2312Gly
XM_006717249.1:c.6920A>G	XP_006717312.1:p.Asp2307Gly
XM_006717250.1:c.6917A>G	XP_006717313.1:p.Asp2306Gly
XM_006717251.1:c.6902A>G	XP_006717314.1:p.Asp2301Gly
XM_006717252.1:c.6875A>G	XP_006717315.1:p.Asp2292Gly
XM_006717253.1:c.6860A>G	XP_006717316.1:p.Asp2287Gly
XM_006717254.1:c.6962A>G	XP_006717317.1:p.Asp2321Gly
NM_001363759.1:c.6962A>G	NP_001350688.1:p.Asp2321Gly
NM_001363765.1:c.6839A>G	NP_001350694.1:p.Asp2280Gly
XM_006717247.2:c.6938A>G	XP_006717310.1:p.Asp2313Gly
XM_006717248.2:c.6935A>G	XP_006717311.1:p.Asp2312Gly
XM_006717251.2:c.6902A>G	XP_006717314.1:p.Asp2301Gly
XM_006717252.3:c.6875A>G	XP_006717315.1:p.Asp2292Gly
XM_017015059.1:c.6881A>G	XP_016870548.1:p.Asp2294Gly
XM_017015060.1:c.6857A>G	XP_016870549.1:p.Asp2286Gly
NM_001130438.3:c.6899A>G MANE Select	NP_001123910.1:p.Asp2300Gly
NM_001195532.2:c.6824A>G	NP_001182461.1:p.Asp2275Gly
NM_001363759.2:c.6962A>G	NP_001350688.1:p.Asp2321Gly
NM_001363765.2:c.6839A>G	NP_001350694.1:p.Asp2280Gly
NM_001375310.1:c.6986A>G	NP_001362239.1:p.Asp2329Gly
NM_001375311.2:c.6899A>G	NP_001362240.1:p.Asp2300Gly
NM_001375312.2:c.6935A>G	NP_001362241.2:p.Asp2312Gly
NM_001375313.1:c.6881A>G	NP_001362242.1:p.Asp2294Gly
NM_001375314.2:c.6839A>G	NP_001362243.1:p.Asp2280Gly
NM_001375318.1:c.6998A>G	NP_001362247.1:p.Asp2333Gly
NM_003127.4:c.6884A>G	NP_003118.2:p.Asp2295Gly