Canonical Allele Identifier: CA467304804

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394460C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632181C>T , CM000671.2:g.128632181C>T	GRCh38
NC_000009.11:g.131394460C>T , CM000671.1:g.131394460C>T	GRCh37
NC_000009.10:g.130434281C>T	NCBI36
NG_027748.1:g.84624C>T
NG_034056.1:g.29670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6853C>T	ENSP00000486547.2:p.Leu2285=
ENST00000630866.2:c.6880C>T	ENSP00000487444.1:p.Leu2294=
ENST00000704202.1:c.6904C>T	ENSP00000515764.1:p.Leu2302=
ENST00000704203.1:c.6853C>T	ENSP00000515765.1:p.Leu2285=
ENST00000704204.1:c.6343C>T	ENSP00000515766.1:p.Leu2115=
ENST00000704206.1:c.4422C>T
ENST00000704207.1:c.2759C>T
ENST00000706487.1:c.6817C>T	ENSP00000516412.1:p.Leu2273=
ENST00000372739.7:c.6817C>T MANE Select	ENSP00000361824.4:p.Leu2273=
ENST00000636010.1:n.541C>T
ENST00000358161.9:c.6742C>T	ENSP00000350882.6:p.Leu2248=
ENST00000372731.8:c.6802C>T	ENSP00000361816.4:p.Leu2268=
ENST00000372739.5:c.6817C>T	ENSP00000361824.3:p.Leu2273=
ENST00000625980.2:n.771C>T
ENST00000630763.1:n.574C>T
ENST00000630804.2:c.6757C>T	ENSP00000486308.1:p.Leu2253=
ENST00000630866.1:c.6880C>T	ENSP00000487444.1:p.Leu2294=
NM_001130438.2:c.6817C>T	NP_001123910.1:p.Leu2273=
NM_001195532.1:c.6742C>T	NP_001182461.1:p.Leu2248=
NM_003127.3:c.6802C>T	NP_003118.2:p.Leu2268=
XM_006717245.1:c.6916C>T	XP_006717308.1:p.Leu2306=
XM_006717246.1:c.6901C>T	XP_006717309.1:p.Leu2301=
XM_006717247.1:c.6856C>T	XP_006717310.1:p.Leu2286=
XM_006717248.1:c.6853C>T	XP_006717311.1:p.Leu2285=
XM_006717249.1:c.6838C>T	XP_006717312.1:p.Leu2280=
XM_006717250.1:c.6835C>T	XP_006717313.1:p.Leu2279=
XM_006717251.1:c.6820C>T	XP_006717314.1:p.Leu2274=
XM_006717252.1:c.6793C>T	XP_006717315.1:p.Leu2265=
XM_006717253.1:c.6778C>T	XP_006717316.1:p.Leu2260=
XM_006717254.1:c.6880C>T	XP_006717317.1:p.Leu2294=
NM_001363759.1:c.6880C>T	NP_001350688.1:p.Leu2294=
NM_001363765.1:c.6757C>T	NP_001350694.1:p.Leu2253=
XM_006717247.2:c.6856C>T	XP_006717310.1:p.Leu2286=
XM_006717248.2:c.6853C>T	XP_006717311.1:p.Leu2285=
XM_006717251.2:c.6820C>T	XP_006717314.1:p.Leu2274=
XM_006717252.3:c.6793C>T	XP_006717315.1:p.Leu2265=
XM_017015059.1:c.6799C>T	XP_016870548.1:p.Leu2267=
XM_017015060.1:c.6775C>T	XP_016870549.1:p.Leu2259=
NM_001130438.3:c.6817C>T MANE Select	NP_001123910.1:p.Leu2273=
NM_001195532.2:c.6742C>T	NP_001182461.1:p.Leu2248=
NM_001363759.2:c.6880C>T	NP_001350688.1:p.Leu2294=
NM_001363765.2:c.6757C>T	NP_001350694.1:p.Leu2253=
NM_001375310.1:c.6904C>T	NP_001362239.1:p.Leu2302=
NM_001375311.2:c.6817C>T	NP_001362240.1:p.Leu2273=
NM_001375312.2:c.6853C>T	NP_001362241.2:p.Leu2285=
NM_001375313.1:c.6799C>T	NP_001362242.1:p.Leu2267=
NM_001375314.2:c.6757C>T	NP_001362243.1:p.Leu2253=
NM_001375318.1:c.6916C>T	NP_001362247.1:p.Leu2306=
NM_003127.4:c.6802C>T	NP_003118.2:p.Leu2268=