Canonical Allele Identifier: CA1880371253

Gene: SPTAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632231G= , CM000671.2:g.128632231G=	GRCh38
NC_000009.11:g.131394510G= , CM000671.1:g.131394510G=	GRCh37
NC_000009.10:g.130434331G=	NCBI36
NG_027748.1:g.84674G=
NG_034056.1:g.29620C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6903G=	ENSP00000486547.2:p.Glu2301=
ENST00000630866.2:c.6930G=	ENSP00000487444.1:p.Glu2310=
ENST00000704202.1:c.6954G=	ENSP00000515764.1:p.Glu2318=
ENST00000704203.1:c.6903G=	ENSP00000515765.1:p.Glu2301=
ENST00000704204.1:c.6393G=	ENSP00000515766.1:p.Glu2131=
ENST00000704206.1:c.4472G=
ENST00000704207.1:c.2809G=
ENST00000706487.1:c.6867G=	ENSP00000516412.1:p.Glu2289=
ENST00000372739.7:c.6867G= MANE Select	ENSP00000361824.4:p.Glu2289=
ENST00000636010.1:n.591G=
ENST00000358161.9:c.6792G=	ENSP00000350882.6:p.Glu2264=
ENST00000372731.8:c.6852G=	ENSP00000361816.4:p.Glu2284=
ENST00000372739.5:c.6867G=	ENSP00000361824.3:p.Glu2289=
ENST00000625980.2:n.821G=
ENST00000630763.1:n.624G=
ENST00000630804.2:c.6807G=	ENSP00000486308.1:p.Glu2269=
ENST00000630866.1:c.6930G=	ENSP00000487444.1:p.Glu2310=
NM_001130438.2:c.6867G=	NP_001123910.1:p.Glu2289=
NM_001195532.1:c.6792G=	NP_001182461.1:p.Glu2264=
NM_003127.3:c.6852G=	NP_003118.2:p.Glu2284=
XM_006717245.1:c.6966G=	XP_006717308.1:p.Glu2322=
XM_006717246.1:c.6951G=	XP_006717309.1:p.Glu2317=
XM_006717247.1:c.6906G=	XP_006717310.1:p.Glu2302=
XM_006717248.1:c.6903G=	XP_006717311.1:p.Glu2301=
XM_006717249.1:c.6888G=	XP_006717312.1:p.Glu2296=
XM_006717250.1:c.6885G=	XP_006717313.1:p.Glu2295=
XM_006717251.1:c.6870G=	XP_006717314.1:p.Glu2290=
XM_006717252.1:c.6843G=	XP_006717315.1:p.Glu2281=
XM_006717253.1:c.6828G=	XP_006717316.1:p.Glu2276=
XM_006717254.1:c.6930G=	XP_006717317.1:p.Glu2310=
NM_001363759.1:c.6930G=	NP_001350688.1:p.Glu2310=
NM_001363765.1:c.6807G=	NP_001350694.1:p.Glu2269=
XM_006717247.2:c.6906G=	XP_006717310.1:p.Glu2302=
XM_006717248.2:c.6903G=	XP_006717311.1:p.Glu2301=
XM_006717251.2:c.6870G=	XP_006717314.1:p.Glu2290=
XM_006717252.3:c.6843G=	XP_006717315.1:p.Glu2281=
XM_017015059.1:c.6849G=	XP_016870548.1:p.Glu2283=
XM_017015060.1:c.6825G=	XP_016870549.1:p.Glu2275=
NM_001130438.3:c.6867G= MANE Select	NP_001123910.1:p.Glu2289=
NM_001195532.2:c.6792G=	NP_001182461.1:p.Glu2264=
NM_001363759.2:c.6930G=	NP_001350688.1:p.Glu2310=
NM_001363765.2:c.6807G=	NP_001350694.1:p.Glu2269=
NM_001375310.1:c.6954G=	NP_001362239.1:p.Glu2318=
NM_001375311.2:c.6867G=	NP_001362240.1:p.Glu2289=
NM_001375312.2:c.6903G=	NP_001362241.2:p.Glu2301=
NM_001375313.1:c.6849G=	NP_001362242.1:p.Glu2283=
NM_001375314.2:c.6807G=	NP_001362243.1:p.Glu2269=
NM_001375318.1:c.6966G=	NP_001362247.1:p.Glu2322=
NM_003127.4:c.6852G=	NP_003118.2:p.Glu2284=