Canonical Allele Identifier: CA1880371256

Gene: SPTAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632241G= , CM000671.2:g.128632241G=	GRCh38
NC_000009.11:g.131394520G= , CM000671.1:g.131394520G=	GRCh37
NC_000009.10:g.130434341G=	NCBI36
NG_027748.1:g.84684G=
NG_034056.1:g.29610C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6913G=	ENSP00000486547.2:p.Val2305=
ENST00000630866.2:c.6940G=	ENSP00000487444.1:p.Val2314=
ENST00000704202.1:c.6964G=	ENSP00000515764.1:p.Val2322=
ENST00000704203.1:c.6913G=	ENSP00000515765.1:p.Val2305=
ENST00000704204.1:c.6403G=	ENSP00000515766.1:p.Val2135=
ENST00000704206.1:c.4482G=
ENST00000704207.1:c.2819G=
ENST00000706487.1:c.6877G=	ENSP00000516412.1:p.Val2293=
ENST00000372739.7:c.6877G= MANE Select	ENSP00000361824.4:p.Val2293=
ENST00000636010.1:n.601G=
ENST00000358161.9:c.6802G=	ENSP00000350882.6:p.Val2268=
ENST00000372731.8:c.6862G=	ENSP00000361816.4:p.Val2288=
ENST00000372739.5:c.6877G=	ENSP00000361824.3:p.Val2293=
ENST00000625980.2:n.831G=
ENST00000630763.1:n.634G=
ENST00000630804.2:c.6817G=	ENSP00000486308.1:p.Val2273=
ENST00000630866.1:c.6940G=	ENSP00000487444.1:p.Val2314=
NM_001130438.2:c.6877G=	NP_001123910.1:p.Val2293=
NM_001195532.1:c.6802G=	NP_001182461.1:p.Val2268=
NM_003127.3:c.6862G=	NP_003118.2:p.Val2288=
XM_006717245.1:c.6976G=	XP_006717308.1:p.Val2326=
XM_006717246.1:c.6961G=	XP_006717309.1:p.Val2321=
XM_006717247.1:c.6916G=	XP_006717310.1:p.Val2306=
XM_006717248.1:c.6913G=	XP_006717311.1:p.Val2305=
XM_006717249.1:c.6898G=	XP_006717312.1:p.Val2300=
XM_006717250.1:c.6895G=	XP_006717313.1:p.Val2299=
XM_006717251.1:c.6880G=	XP_006717314.1:p.Val2294=
XM_006717252.1:c.6853G=	XP_006717315.1:p.Val2285=
XM_006717253.1:c.6838G=	XP_006717316.1:p.Val2280=
XM_006717254.1:c.6940G=	XP_006717317.1:p.Val2314=
NM_001363759.1:c.6940G=	NP_001350688.1:p.Val2314=
NM_001363765.1:c.6817G=	NP_001350694.1:p.Val2273=
XM_006717247.2:c.6916G=	XP_006717310.1:p.Val2306=
XM_006717248.2:c.6913G=	XP_006717311.1:p.Val2305=
XM_006717251.2:c.6880G=	XP_006717314.1:p.Val2294=
XM_006717252.3:c.6853G=	XP_006717315.1:p.Val2285=
XM_017015059.1:c.6859G=	XP_016870548.1:p.Val2287=
XM_017015060.1:c.6835G=	XP_016870549.1:p.Val2279=
NM_001130438.3:c.6877G= MANE Select	NP_001123910.1:p.Val2293=
NM_001195532.2:c.6802G=	NP_001182461.1:p.Val2268=
NM_001363759.2:c.6940G=	NP_001350688.1:p.Val2314=
NM_001363765.2:c.6817G=	NP_001350694.1:p.Val2273=
NM_001375310.1:c.6964G=	NP_001362239.1:p.Val2322=
NM_001375311.2:c.6877G=	NP_001362240.1:p.Val2293=
NM_001375312.2:c.6913G=	NP_001362241.2:p.Val2305=
NM_001375313.1:c.6859G=	NP_001362242.1:p.Val2287=
NM_001375314.2:c.6817G=	NP_001362243.1:p.Val2273=
NM_001375318.1:c.6976G=	NP_001362247.1:p.Val2326=
NM_003127.4:c.6862G=	NP_003118.2:p.Val2288=