Canonical Allele Identifier: CA1880371244

Gene: SPTAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632204C= , CM000671.2:g.128632204C=	GRCh38
NC_000009.11:g.131394483C= , CM000671.1:g.131394483C=	GRCh37
NC_000009.10:g.130434304C=	NCBI36
NG_027748.1:g.84647C=
NG_034056.1:g.29647G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6876C=	ENSP00000486547.2:p.Ala2292=
ENST00000630866.2:c.6903C=	ENSP00000487444.1:p.Ala2301=
ENST00000704202.1:c.6927C=	ENSP00000515764.1:p.Ala2309=
ENST00000704203.1:c.6876C=	ENSP00000515765.1:p.Ala2292=
ENST00000704204.1:c.6366C=	ENSP00000515766.1:p.Ala2122=
ENST00000704206.1:c.4445C=
ENST00000704207.1:c.2782C=
ENST00000706487.1:c.6840C=	ENSP00000516412.1:p.Ala2280=
ENST00000372739.7:c.6840C= MANE Select	ENSP00000361824.4:p.Ala2280=
ENST00000636010.1:n.564C=
ENST00000358161.9:c.6765C=	ENSP00000350882.6:p.Ala2255=
ENST00000372731.8:c.6825C=	ENSP00000361816.4:p.Ala2275=
ENST00000372739.5:c.6840C=	ENSP00000361824.3:p.Ala2280=
ENST00000625980.2:n.794C=
ENST00000630763.1:n.597C=
ENST00000630804.2:c.6780C=	ENSP00000486308.1:p.Ala2260=
ENST00000630866.1:c.6903C=	ENSP00000487444.1:p.Ala2301=
NM_001130438.2:c.6840C=	NP_001123910.1:p.Ala2280=
NM_001195532.1:c.6765C=	NP_001182461.1:p.Ala2255=
NM_003127.3:c.6825C=	NP_003118.2:p.Ala2275=
XM_006717245.1:c.6939C=	XP_006717308.1:p.Ala2313=
XM_006717246.1:c.6924C=	XP_006717309.1:p.Ala2308=
XM_006717247.1:c.6879C=	XP_006717310.1:p.Ala2293=
XM_006717248.1:c.6876C=	XP_006717311.1:p.Ala2292=
XM_006717249.1:c.6861C=	XP_006717312.1:p.Ala2287=
XM_006717250.1:c.6858C=	XP_006717313.1:p.Ala2286=
XM_006717251.1:c.6843C=	XP_006717314.1:p.Ala2281=
XM_006717252.1:c.6816C=	XP_006717315.1:p.Ala2272=
XM_006717253.1:c.6801C=	XP_006717316.1:p.Ala2267=
XM_006717254.1:c.6903C=	XP_006717317.1:p.Ala2301=
NM_001363759.1:c.6903C=	NP_001350688.1:p.Ala2301=
NM_001363765.1:c.6780C=	NP_001350694.1:p.Ala2260=
XM_006717247.2:c.6879C=	XP_006717310.1:p.Ala2293=
XM_006717248.2:c.6876C=	XP_006717311.1:p.Ala2292=
XM_006717251.2:c.6843C=	XP_006717314.1:p.Ala2281=
XM_006717252.3:c.6816C=	XP_006717315.1:p.Ala2272=
XM_017015059.1:c.6822C=	XP_016870548.1:p.Ala2274=
XM_017015060.1:c.6798C=	XP_016870549.1:p.Ala2266=
NM_001130438.3:c.6840C= MANE Select	NP_001123910.1:p.Ala2280=
NM_001195532.2:c.6765C=	NP_001182461.1:p.Ala2255=
NM_001363759.2:c.6903C=	NP_001350688.1:p.Ala2301=
NM_001363765.2:c.6780C=	NP_001350694.1:p.Ala2260=
NM_001375310.1:c.6927C=	NP_001362239.1:p.Ala2309=
NM_001375311.2:c.6840C=	NP_001362240.1:p.Ala2280=
NM_001375312.2:c.6876C=	NP_001362241.2:p.Ala2292=
NM_001375313.1:c.6822C=	NP_001362242.1:p.Ala2274=
NM_001375314.2:c.6780C=	NP_001362243.1:p.Ala2260=
NM_001375318.1:c.6939C=	NP_001362247.1:p.Ala2313=
NM_003127.4:c.6825C=	NP_003118.2:p.Ala2275=