Canonical Allele Identifier: CA1880371265

Gene: SPTAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632268C= , CM000671.2:g.128632268C=	GRCh38
NC_000009.11:g.131394547C= , CM000671.1:g.131394547C=	GRCh37
NC_000009.10:g.130434368C=	NCBI36
NG_027748.1:g.84711C=
NG_034056.1:g.29583G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6940C=	ENSP00000486547.2:p.Leu2314=
ENST00000630866.2:c.6967C=	ENSP00000487444.1:p.Leu2323=
ENST00000704202.1:c.6991C=	ENSP00000515764.1:p.Leu2331=
ENST00000704203.1:c.6940C=	ENSP00000515765.1:p.Leu2314=
ENST00000704204.1:c.6430C=	ENSP00000515766.1:p.Leu2144=
ENST00000704206.1:c.4509C=
ENST00000704207.1:c.2846C=
ENST00000706487.1:c.6904C=	ENSP00000516412.1:p.Leu2302=
ENST00000372739.7:c.6904C= MANE Select	ENSP00000361824.4:p.Leu2302=
ENST00000636010.1:n.628C=
ENST00000358161.9:c.6829C=	ENSP00000350882.6:p.Leu2277=
ENST00000372731.8:c.6889C=	ENSP00000361816.4:p.Leu2297=
ENST00000372739.5:c.6904C=	ENSP00000361824.3:p.Leu2302=
ENST00000625980.2:n.858C=
ENST00000630763.1:n.661C=
ENST00000630804.2:c.6844C=	ENSP00000486308.1:p.Leu2282=
ENST00000630866.1:c.6967C=	ENSP00000487444.1:p.Leu2323=
NM_001130438.2:c.6904C=	NP_001123910.1:p.Leu2302=
NM_001195532.1:c.6829C=	NP_001182461.1:p.Leu2277=
NM_003127.3:c.6889C=	NP_003118.2:p.Leu2297=
XM_006717245.1:c.7003C=	XP_006717308.1:p.Leu2335=
XM_006717246.1:c.6988C=	XP_006717309.1:p.Leu2330=
XM_006717247.1:c.6943C=	XP_006717310.1:p.Leu2315=
XM_006717248.1:c.6940C=	XP_006717311.1:p.Leu2314=
XM_006717249.1:c.6925C=	XP_006717312.1:p.Leu2309=
XM_006717250.1:c.6922C=	XP_006717313.1:p.Leu2308=
XM_006717251.1:c.6907C=	XP_006717314.1:p.Leu2303=
XM_006717252.1:c.6880C=	XP_006717315.1:p.Leu2294=
XM_006717253.1:c.6865C=	XP_006717316.1:p.Leu2289=
XM_006717254.1:c.6967C=	XP_006717317.1:p.Leu2323=
NM_001363759.1:c.6967C=	NP_001350688.1:p.Leu2323=
NM_001363765.1:c.6844C=	NP_001350694.1:p.Leu2282=
XM_006717247.2:c.6943C=	XP_006717310.1:p.Leu2315=
XM_006717248.2:c.6940C=	XP_006717311.1:p.Leu2314=
XM_006717251.2:c.6907C=	XP_006717314.1:p.Leu2303=
XM_006717252.3:c.6880C=	XP_006717315.1:p.Leu2294=
XM_017015059.1:c.6886C=	XP_016870548.1:p.Leu2296=
XM_017015060.1:c.6862C=	XP_016870549.1:p.Leu2288=
NM_001130438.3:c.6904C= MANE Select	NP_001123910.1:p.Leu2302=
NM_001195532.2:c.6829C=	NP_001182461.1:p.Leu2277=
NM_001363759.2:c.6967C=	NP_001350688.1:p.Leu2323=
NM_001363765.2:c.6844C=	NP_001350694.1:p.Leu2282=
NM_001375310.1:c.6991C=	NP_001362239.1:p.Leu2331=
NM_001375311.2:c.6904C=	NP_001362240.1:p.Leu2302=
NM_001375312.2:c.6940C=	NP_001362241.2:p.Leu2314=
NM_001375313.1:c.6886C=	NP_001362242.1:p.Leu2296=
NM_001375314.2:c.6844C=	NP_001362243.1:p.Leu2282=
NM_001375318.1:c.7003C=	NP_001362247.1:p.Leu2335=
NM_003127.4:c.6889C=	NP_003118.2:p.Leu2297=