Canonical Allele Identifier: CA1880371250

Gene: SPTAN1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632219C= , CM000671.2:g.128632219C=	GRCh38
NC_000009.11:g.131394498C= , CM000671.1:g.131394498C=	GRCh37
NC_000009.10:g.130434319C=	NCBI36
NG_027748.1:g.84662C=
NG_034056.1:g.29632G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6891C=	ENSP00000486547.2:p.Asn2297=
ENST00000630866.2:c.6918C=	ENSP00000487444.1:p.Asn2306=
ENST00000704202.1:c.6942C=	ENSP00000515764.1:p.Asn2314=
ENST00000704203.1:c.6891C=	ENSP00000515765.1:p.Asn2297=
ENST00000704204.1:c.6381C=	ENSP00000515766.1:p.Asn2127=
ENST00000704206.1:c.4460C=
ENST00000704207.1:c.2797C=
ENST00000706487.1:c.6855C=	ENSP00000516412.1:p.Asn2285=
ENST00000372739.7:c.6855C= MANE Select	ENSP00000361824.4:p.Asn2285=
ENST00000636010.1:n.579C=
ENST00000358161.9:c.6780C=	ENSP00000350882.6:p.Asn2260=
ENST00000372731.8:c.6840C=	ENSP00000361816.4:p.Asn2280=
ENST00000372739.5:c.6855C=	ENSP00000361824.3:p.Asn2285=
ENST00000625980.2:n.809C=
ENST00000630763.1:n.612C=
ENST00000630804.2:c.6795C=	ENSP00000486308.1:p.Asn2265=
ENST00000630866.1:c.6918C=	ENSP00000487444.1:p.Asn2306=
NM_001130438.2:c.6855C=	NP_001123910.1:p.Asn2285=
NM_001195532.1:c.6780C=	NP_001182461.1:p.Asn2260=
NM_003127.3:c.6840C=	NP_003118.2:p.Asn2280=
XM_006717245.1:c.6954C=	XP_006717308.1:p.Asn2318=
XM_006717246.1:c.6939C=	XP_006717309.1:p.Asn2313=
XM_006717247.1:c.6894C=	XP_006717310.1:p.Asn2298=
XM_006717248.1:c.6891C=	XP_006717311.1:p.Asn2297=
XM_006717249.1:c.6876C=	XP_006717312.1:p.Asn2292=
XM_006717250.1:c.6873C=	XP_006717313.1:p.Asn2291=
XM_006717251.1:c.6858C=	XP_006717314.1:p.Asn2286=
XM_006717252.1:c.6831C=	XP_006717315.1:p.Asn2277=
XM_006717253.1:c.6816C=	XP_006717316.1:p.Asn2272=
XM_006717254.1:c.6918C=	XP_006717317.1:p.Asn2306=
NM_001363759.1:c.6918C=	NP_001350688.1:p.Asn2306=
NM_001363765.1:c.6795C=	NP_001350694.1:p.Asn2265=
XM_006717247.2:c.6894C=	XP_006717310.1:p.Asn2298=
XM_006717248.2:c.6891C=	XP_006717311.1:p.Asn2297=
XM_006717251.2:c.6858C=	XP_006717314.1:p.Asn2286=
XM_006717252.3:c.6831C=	XP_006717315.1:p.Asn2277=
XM_017015059.1:c.6837C=	XP_016870548.1:p.Asn2279=
XM_017015060.1:c.6813C=	XP_016870549.1:p.Asn2271=
NM_001130438.3:c.6855C= MANE Select	NP_001123910.1:p.Asn2285=
NM_001195532.2:c.6780C=	NP_001182461.1:p.Asn2260=
NM_001363759.2:c.6918C=	NP_001350688.1:p.Asn2306=
NM_001363765.2:c.6795C=	NP_001350694.1:p.Asn2265=
NM_001375310.1:c.6942C=	NP_001362239.1:p.Asn2314=
NM_001375311.2:c.6855C=	NP_001362240.1:p.Asn2285=
NM_001375312.2:c.6891C=	NP_001362241.2:p.Asn2297=
NM_001375313.1:c.6837C=	NP_001362242.1:p.Asn2279=
NM_001375314.2:c.6795C=	NP_001362243.1:p.Asn2265=
NM_001375318.1:c.6954C=	NP_001362247.1:p.Asn2318=
NM_003127.4:c.6840C=	NP_003118.2:p.Asn2280=