Canonical Allele Identifier: CA1880371241

Gene: SPTAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632200A= , CM000671.2:g.128632200A=	GRCh38
NC_000009.11:g.131394479A= , CM000671.1:g.131394479A=	GRCh37
NC_000009.10:g.130434300A=	NCBI36
NG_027748.1:g.84643A=
NG_034056.1:g.29651T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6872A=	ENSP00000486547.2:p.Glu2291=
ENST00000630866.2:c.6899A=	ENSP00000487444.1:p.Glu2300=
ENST00000704202.1:c.6923A=	ENSP00000515764.1:p.Glu2308=
ENST00000704203.1:c.6872A=	ENSP00000515765.1:p.Glu2291=
ENST00000704204.1:c.6362A=	ENSP00000515766.1:p.Glu2121=
ENST00000704206.1:c.4441A=
ENST00000704207.1:c.2778A=
ENST00000706487.1:c.6836A=	ENSP00000516412.1:p.Glu2279=
ENST00000372739.7:c.6836A= MANE Select	ENSP00000361824.4:p.Glu2279=
ENST00000636010.1:n.560A=
ENST00000358161.9:c.6761A=	ENSP00000350882.6:p.Glu2254=
ENST00000372731.8:c.6821A=	ENSP00000361816.4:p.Glu2274=
ENST00000372739.5:c.6836A=	ENSP00000361824.3:p.Glu2279=
ENST00000625980.2:n.790A=
ENST00000630763.1:n.593A=
ENST00000630804.2:c.6776A=	ENSP00000486308.1:p.Glu2259=
ENST00000630866.1:c.6899A=	ENSP00000487444.1:p.Glu2300=
NM_001130438.2:c.6836A=	NP_001123910.1:p.Glu2279=
NM_001195532.1:c.6761A=	NP_001182461.1:p.Glu2254=
NM_003127.3:c.6821A=	NP_003118.2:p.Glu2274=
XM_006717245.1:c.6935A=	XP_006717308.1:p.Glu2312=
XM_006717246.1:c.6920A=	XP_006717309.1:p.Glu2307=
XM_006717247.1:c.6875A=	XP_006717310.1:p.Glu2292=
XM_006717248.1:c.6872A=	XP_006717311.1:p.Glu2291=
XM_006717249.1:c.6857A=	XP_006717312.1:p.Glu2286=
XM_006717250.1:c.6854A=	XP_006717313.1:p.Glu2285=
XM_006717251.1:c.6839A=	XP_006717314.1:p.Glu2280=
XM_006717252.1:c.6812A=	XP_006717315.1:p.Glu2271=
XM_006717253.1:c.6797A=	XP_006717316.1:p.Glu2266=
XM_006717254.1:c.6899A=	XP_006717317.1:p.Glu2300=
NM_001363759.1:c.6899A=	NP_001350688.1:p.Glu2300=
NM_001363765.1:c.6776A=	NP_001350694.1:p.Glu2259=
XM_006717247.2:c.6875A=	XP_006717310.1:p.Glu2292=
XM_006717248.2:c.6872A=	XP_006717311.1:p.Glu2291=
XM_006717251.2:c.6839A=	XP_006717314.1:p.Glu2280=
XM_006717252.3:c.6812A=	XP_006717315.1:p.Glu2271=
XM_017015059.1:c.6818A=	XP_016870548.1:p.Glu2273=
XM_017015060.1:c.6794A=	XP_016870549.1:p.Glu2265=
NM_001130438.3:c.6836A= MANE Select	NP_001123910.1:p.Glu2279=
NM_001195532.2:c.6761A=	NP_001182461.1:p.Glu2254=
NM_001363759.2:c.6899A=	NP_001350688.1:p.Glu2300=
NM_001363765.2:c.6776A=	NP_001350694.1:p.Glu2259=
NM_001375310.1:c.6923A=	NP_001362239.1:p.Glu2308=
NM_001375311.2:c.6836A=	NP_001362240.1:p.Glu2279=
NM_001375312.2:c.6872A=	NP_001362241.2:p.Glu2291=
NM_001375313.1:c.6818A=	NP_001362242.1:p.Glu2273=
NM_001375314.2:c.6776A=	NP_001362243.1:p.Glu2259=
NM_001375318.1:c.6935A=	NP_001362247.1:p.Glu2312=
NM_003127.4:c.6821A=	NP_003118.2:p.Glu2274=