Canonical Allele Identifier: CA375097788

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394478G>A (hg19) ; chr9:g.128632199G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632199G>A , CM000671.2:g.128632199G>A	GRCh38
NC_000009.11:g.131394478G>A , CM000671.1:g.131394478G>A	GRCh37
NC_000009.10:g.130434299G>A	NCBI36
NG_027748.1:g.84642G>A
NG_034056.1:g.29652C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6871G>A	ENSP00000486547.2:p.Glu2291Lys
ENST00000630866.2:c.6898G>A	ENSP00000487444.1:p.Glu2300Lys
ENST00000704202.1:c.6922G>A	ENSP00000515764.1:p.Glu2308Lys
ENST00000704203.1:c.6871G>A	ENSP00000515765.1:p.Glu2291Lys
ENST00000704204.1:c.6361G>A	ENSP00000515766.1:p.Glu2121Lys
ENST00000704206.1:c.4440G>A
ENST00000704207.1:c.2777G>A
ENST00000706487.1:c.6835G>A	ENSP00000516412.1:p.Glu2279Lys
ENST00000372739.7:c.6835G>A MANE Select	ENSP00000361824.4:p.Glu2279Lys
ENST00000636010.1:n.559G>A
ENST00000358161.9:c.6760G>A	ENSP00000350882.6:p.Glu2254Lys
ENST00000372731.8:c.6820G>A	ENSP00000361816.4:p.Glu2274Lys
ENST00000372739.5:c.6835G>A	ENSP00000361824.3:p.Glu2279Lys
ENST00000625980.2:n.789G>A
ENST00000630763.1:n.592G>A
ENST00000630804.2:c.6775G>A	ENSP00000486308.1:p.Glu2259Lys
ENST00000630866.1:c.6898G>A	ENSP00000487444.1:p.Glu2300Lys
NM_001130438.2:c.6835G>A	NP_001123910.1:p.Glu2279Lys
NM_001195532.1:c.6760G>A	NP_001182461.1:p.Glu2254Lys
NM_003127.3:c.6820G>A	NP_003118.2:p.Glu2274Lys
XM_006717245.1:c.6934G>A	XP_006717308.1:p.Glu2312Lys
XM_006717246.1:c.6919G>A	XP_006717309.1:p.Glu2307Lys
XM_006717247.1:c.6874G>A	XP_006717310.1:p.Glu2292Lys
XM_006717248.1:c.6871G>A	XP_006717311.1:p.Glu2291Lys
XM_006717249.1:c.6856G>A	XP_006717312.1:p.Glu2286Lys
XM_006717250.1:c.6853G>A	XP_006717313.1:p.Glu2285Lys
XM_006717251.1:c.6838G>A	XP_006717314.1:p.Glu2280Lys
XM_006717252.1:c.6811G>A	XP_006717315.1:p.Glu2271Lys
XM_006717253.1:c.6796G>A	XP_006717316.1:p.Glu2266Lys
XM_006717254.1:c.6898G>A	XP_006717317.1:p.Glu2300Lys
NM_001363759.1:c.6898G>A	NP_001350688.1:p.Glu2300Lys
NM_001363765.1:c.6775G>A	NP_001350694.1:p.Glu2259Lys
XM_006717247.2:c.6874G>A	XP_006717310.1:p.Glu2292Lys
XM_006717248.2:c.6871G>A	XP_006717311.1:p.Glu2291Lys
XM_006717251.2:c.6838G>A	XP_006717314.1:p.Glu2280Lys
XM_006717252.3:c.6811G>A	XP_006717315.1:p.Glu2271Lys
XM_017015059.1:c.6817G>A	XP_016870548.1:p.Glu2273Lys
XM_017015060.1:c.6793G>A	XP_016870549.1:p.Glu2265Lys
NM_001130438.3:c.6835G>A MANE Select	NP_001123910.1:p.Glu2279Lys
NM_001195532.2:c.6760G>A	NP_001182461.1:p.Glu2254Lys
NM_001363759.2:c.6898G>A	NP_001350688.1:p.Glu2300Lys
NM_001363765.2:c.6775G>A	NP_001350694.1:p.Glu2259Lys
NM_001375310.1:c.6922G>A	NP_001362239.1:p.Glu2308Lys
NM_001375311.2:c.6835G>A	NP_001362240.1:p.Glu2279Lys
NM_001375312.2:c.6871G>A	NP_001362241.2:p.Glu2291Lys
NM_001375313.1:c.6817G>A	NP_001362242.1:p.Glu2273Lys
NM_001375314.2:c.6775G>A	NP_001362243.1:p.Glu2259Lys
NM_001375318.1:c.6934G>A	NP_001362247.1:p.Glu2312Lys
NM_003127.4:c.6820G>A	NP_003118.2:p.Glu2274Lys