Canonical Allele Identifier: CA318645

Gene: SPTAN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632687G>A , CM000671.2:g.128632687G>A	GRCh38
NC_000009.11:g.131394966G>A , CM000671.1:g.131394966G>A	GRCh37
NC_000009.10:g.130434787G>A	NCBI36
NG_027748.1:g.85130G>A
NG_034056.1:g.29164C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.7165G>A	ENSP00000486547.2:p.Glu2389Lys
ENST00000630866.2:c.7192G>A	ENSP00000487444.1:p.Glu2398Lys
ENST00000704202.1:c.7216G>A	ENSP00000515764.1:p.Glu2406Lys
ENST00000704203.1:c.7165G>A	ENSP00000515765.1:p.Glu2389Lys
ENST00000704204.1:c.6655G>A	ENSP00000515766.1:p.Glu2219Lys
ENST00000704206.1:c.4734G>A
ENST00000704207.1:c.3071G>A
ENST00000706487.1:c.7129G>A	ENSP00000516412.1:p.Glu2377Lys
ENST00000372739.7:c.7129G>A MANE Select	ENSP00000361824.4:p.Glu2377Lys
ENST00000636010.1:n.853G>A
ENST00000358161.9:c.7054G>A	ENSP00000350882.6:p.Glu2352Lys
ENST00000372731.8:c.7114G>A	ENSP00000361816.4:p.Glu2372Lys
ENST00000372739.5:c.7129G>A	ENSP00000361824.3:p.Glu2377Lys
ENST00000625980.2:n.1083G>A
ENST00000630147.1:n.63G>A
ENST00000630763.1:n.886G>A
ENST00000630804.2:c.7069G>A	ENSP00000486308.1:p.Glu2357Lys
ENST00000630866.1:c.7192G>A	ENSP00000487444.1:p.Glu2398Lys
ENST00000630981.1:c.2G>A
NM_001130438.2:c.7129G>A	NP_001123910.1:p.Glu2377Lys
NM_001195532.1:c.7054G>A	NP_001182461.1:p.Glu2352Lys
NM_003127.3:c.7114G>A	NP_003118.2:p.Glu2372Lys
XM_006717245.1:c.7228G>A	XP_006717308.1:p.Glu2410Lys
XM_006717246.1:c.7213G>A	XP_006717309.1:p.Glu2405Lys
XM_006717247.1:c.7168G>A	XP_006717310.1:p.Glu2390Lys
XM_006717248.1:c.7165G>A	XP_006717311.1:p.Glu2389Lys
XM_006717249.1:c.7150G>A	XP_006717312.1:p.Glu2384Lys
XM_006717250.1:c.7147G>A	XP_006717313.1:p.Glu2383Lys
XM_006717251.1:c.7132G>A	XP_006717314.1:p.Glu2378Lys
XM_006717252.1:c.7105G>A	XP_006717315.1:p.Glu2369Lys
XM_006717253.1:c.7090G>A	XP_006717316.1:p.Glu2364Lys
XM_006717254.1:c.7192G>A	XP_006717317.1:p.Glu2398Lys
NM_001363759.1:c.7192G>A	NP_001350688.1:p.Glu2398Lys
NM_001363765.1:c.7069G>A	NP_001350694.1:p.Glu2357Lys
XM_006717247.2:c.7168G>A	XP_006717310.1:p.Glu2390Lys
XM_006717248.2:c.7165G>A	XP_006717311.1:p.Glu2389Lys
XM_006717251.2:c.7132G>A	XP_006717314.1:p.Glu2378Lys
XM_006717252.3:c.7105G>A	XP_006717315.1:p.Glu2369Lys
XM_017015059.1:c.7111G>A	XP_016870548.1:p.Glu2371Lys
XM_017015060.1:c.7087G>A	XP_016870549.1:p.Glu2363Lys
NM_001130438.3:c.7129G>A MANE Select	NP_001123910.1:p.Glu2377Lys
NM_001195532.2:c.7054G>A	NP_001182461.1:p.Glu2352Lys
NM_001363759.2:c.7192G>A	NP_001350688.1:p.Glu2398Lys
NM_001363765.2:c.7069G>A	NP_001350694.1:p.Glu2357Lys
NM_001375310.1:c.7216G>A	NP_001362239.1:p.Glu2406Lys
NM_001375311.2:c.7129G>A	NP_001362240.1:p.Glu2377Lys
NM_001375312.2:c.7165G>A	NP_001362241.2:p.Glu2389Lys
NM_001375313.1:c.7111G>A	NP_001362242.1:p.Glu2371Lys
NM_001375314.2:c.7069G>A	NP_001362243.1:p.Glu2357Lys
NM_001375318.1:c.7228G>A	NP_001362247.1:p.Glu2410Lys
NM_003127.4:c.7114G>A	NP_003118.2:p.Glu2372Lys