Canonical Allele Identifier: CA375097793

Gene: SPTAN1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6871G>T	ENSP00000486547.2:p.Glu2291Ter
ENST00000630866.2:c.6898G>T	ENSP00000487444.1:p.Glu2300Ter
ENST00000704202.1:c.6922G>T	ENSP00000515764.1:p.Glu2308Ter
ENST00000704203.1:c.6871G>T	ENSP00000515765.1:p.Glu2291Ter
ENST00000704204.1:c.6361G>T	ENSP00000515766.1:p.Glu2121Ter
ENST00000704206.1:c.4440G>T
ENST00000704207.1:c.2777G>T
ENST00000706487.1:c.6835G>T	ENSP00000516412.1:p.Glu2279Ter
ENST00000372739.7:c.6835G>T MANE Select	ENSP00000361824.4:p.Glu2279Ter
ENST00000636010.1:n.559G>T
ENST00000358161.9:c.6760G>T	ENSP00000350882.6:p.Glu2254Ter
ENST00000372731.8:c.6820G>T	ENSP00000361816.4:p.Glu2274Ter
ENST00000372739.5:c.6835G>T	ENSP00000361824.3:p.Glu2279Ter
ENST00000625980.2:n.789G>T
ENST00000630763.1:n.592G>T
ENST00000630804.2:c.6775G>T	ENSP00000486308.1:p.Glu2259Ter
ENST00000630866.1:c.6898G>T	ENSP00000487444.1:p.Glu2300Ter
NM_001130438.2:c.6835G>T	NP_001123910.1:p.Glu2279Ter
NM_001195532.1:c.6760G>T	NP_001182461.1:p.Glu2254Ter
NM_003127.3:c.6820G>T	NP_003118.2:p.Glu2274Ter
XM_006717245.1:c.6934G>T	XP_006717308.1:p.Glu2312Ter
XM_006717246.1:c.6919G>T	XP_006717309.1:p.Glu2307Ter
XM_006717247.1:c.6874G>T	XP_006717310.1:p.Glu2292Ter
XM_006717248.1:c.6871G>T	XP_006717311.1:p.Glu2291Ter
XM_006717249.1:c.6856G>T	XP_006717312.1:p.Glu2286Ter
XM_006717250.1:c.6853G>T	XP_006717313.1:p.Glu2285Ter
XM_006717251.1:c.6838G>T	XP_006717314.1:p.Glu2280Ter
XM_006717252.1:c.6811G>T	XP_006717315.1:p.Glu2271Ter
XM_006717253.1:c.6796G>T	XP_006717316.1:p.Glu2266Ter
XM_006717254.1:c.6898G>T	XP_006717317.1:p.Glu2300Ter
NM_001363759.1:c.6898G>T	NP_001350688.1:p.Glu2300Ter
NM_001363765.1:c.6775G>T	NP_001350694.1:p.Glu2259Ter
XM_006717247.2:c.6874G>T	XP_006717310.1:p.Glu2292Ter
XM_006717248.2:c.6871G>T	XP_006717311.1:p.Glu2291Ter
XM_006717251.2:c.6838G>T	XP_006717314.1:p.Glu2280Ter
XM_006717252.3:c.6811G>T	XP_006717315.1:p.Glu2271Ter
XM_017015059.1:c.6817G>T	XP_016870548.1:p.Glu2273Ter
XM_017015060.1:c.6793G>T	XP_016870549.1:p.Glu2265Ter
NM_001130438.3:c.6835G>T MANE Select	NP_001123910.1:p.Glu2279Ter
NM_001195532.2:c.6760G>T	NP_001182461.1:p.Glu2254Ter
NM_001363759.2:c.6898G>T	NP_001350688.1:p.Glu2300Ter
NM_001363765.2:c.6775G>T	NP_001350694.1:p.Glu2259Ter
NM_001375310.1:c.6922G>T	NP_001362239.1:p.Glu2308Ter
NM_001375311.2:c.6835G>T	NP_001362240.1:p.Glu2279Ter
NM_001375312.2:c.6871G>T	NP_001362241.2:p.Glu2291Ter
NM_001375313.1:c.6817G>T	NP_001362242.1:p.Glu2273Ter
NM_001375314.2:c.6775G>T	NP_001362243.1:p.Glu2259Ter
NM_001375318.1:c.6934G>T	NP_001362247.1:p.Glu2312Ter
NM_003127.4:c.6820G>T	NP_003118.2:p.Glu2274Ter