Canonical Allele Identifier: CA375098626

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394546G>T (hg19) ; chr9:g.128632267G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632267G>T , CM000671.2:g.128632267G>T	GRCh38
NC_000009.11:g.131394546G>T , CM000671.1:g.131394546G>T	GRCh37
NC_000009.10:g.130434367G>T	NCBI36
NG_027748.1:g.84710G>T
NG_034056.1:g.29584C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6939G>T	ENSP00000486547.2:p.Gln2313His
ENST00000630866.2:c.6966G>T	ENSP00000487444.1:p.Gln2322His
ENST00000704202.1:c.6990G>T	ENSP00000515764.1:p.Gln2330His
ENST00000704203.1:c.6939G>T	ENSP00000515765.1:p.Gln2313His
ENST00000704204.1:c.6429G>T	ENSP00000515766.1:p.Gln2143His
ENST00000704206.1:c.4508G>T
ENST00000704207.1:c.2845G>T
ENST00000706487.1:c.6903G>T	ENSP00000516412.1:p.Gln2301His
ENST00000372739.7:c.6903G>T MANE Select	ENSP00000361824.4:p.Gln2301His
ENST00000636010.1:n.627G>T
ENST00000358161.9:c.6828G>T	ENSP00000350882.6:p.Gln2276His
ENST00000372731.8:c.6888G>T	ENSP00000361816.4:p.Gln2296His
ENST00000372739.5:c.6903G>T	ENSP00000361824.3:p.Gln2301His
ENST00000625980.2:n.857G>T
ENST00000630763.1:n.660G>T
ENST00000630804.2:c.6843G>T	ENSP00000486308.1:p.Gln2281His
ENST00000630866.1:c.6966G>T	ENSP00000487444.1:p.Gln2322His
NM_001130438.2:c.6903G>T	NP_001123910.1:p.Gln2301His
NM_001195532.1:c.6828G>T	NP_001182461.1:p.Gln2276His
NM_003127.3:c.6888G>T	NP_003118.2:p.Gln2296His
XM_006717245.1:c.7002G>T	XP_006717308.1:p.Gln2334His
XM_006717246.1:c.6987G>T	XP_006717309.1:p.Gln2329His
XM_006717247.1:c.6942G>T	XP_006717310.1:p.Gln2314His
XM_006717248.1:c.6939G>T	XP_006717311.1:p.Gln2313His
XM_006717249.1:c.6924G>T	XP_006717312.1:p.Gln2308His
XM_006717250.1:c.6921G>T	XP_006717313.1:p.Gln2307His
XM_006717251.1:c.6906G>T	XP_006717314.1:p.Gln2302His
XM_006717252.1:c.6879G>T	XP_006717315.1:p.Gln2293His
XM_006717253.1:c.6864G>T	XP_006717316.1:p.Gln2288His
XM_006717254.1:c.6966G>T	XP_006717317.1:p.Gln2322His
NM_001363759.1:c.6966G>T	NP_001350688.1:p.Gln2322His
NM_001363765.1:c.6843G>T	NP_001350694.1:p.Gln2281His
XM_006717247.2:c.6942G>T	XP_006717310.1:p.Gln2314His
XM_006717248.2:c.6939G>T	XP_006717311.1:p.Gln2313His
XM_006717251.2:c.6906G>T	XP_006717314.1:p.Gln2302His
XM_006717252.3:c.6879G>T	XP_006717315.1:p.Gln2293His
XM_017015059.1:c.6885G>T	XP_016870548.1:p.Gln2295His
XM_017015060.1:c.6861G>T	XP_016870549.1:p.Gln2287His
NM_001130438.3:c.6903G>T MANE Select	NP_001123910.1:p.Gln2301His
NM_001195532.2:c.6828G>T	NP_001182461.1:p.Gln2276His
NM_001363759.2:c.6966G>T	NP_001350688.1:p.Gln2322His
NM_001363765.2:c.6843G>T	NP_001350694.1:p.Gln2281His
NM_001375310.1:c.6990G>T	NP_001362239.1:p.Gln2330His
NM_001375311.2:c.6903G>T	NP_001362240.1:p.Gln2301His
NM_001375312.2:c.6939G>T	NP_001362241.2:p.Gln2313His
NM_001375313.1:c.6885G>T	NP_001362242.1:p.Gln2295His
NM_001375314.2:c.6843G>T	NP_001362243.1:p.Gln2281His
NM_001375318.1:c.7002G>T	NP_001362247.1:p.Gln2334His
NM_003127.4:c.6888G>T	NP_003118.2:p.Gln2296His