Canonical Allele Identifier: CA5265005

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 387836
• ClinVar RCV Id: RCV000546854 ; RCV001704437 ; RCV003932659
• dbSNP Id: rs750007543
• ExAC: 9:131366616 G / A
• gnomAD v2: 9-131366616-G-A
• gnomAD v3: 9-128604337-G-A
• gnomAD v4: 9-128604337-G-A
• MyVariant Identifiers: chr9:g.131366616G>A (hg19) ; chr9:g.128604337G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128604337G>A , CM000671.2:g.128604337G>A	GRCh38
NC_000009.11:g.131366616G>A , CM000671.1:g.131366616G>A	GRCh37
NC_000009.10:g.130406437G>A	NCBI36
NG_027748.1:g.56780G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000627441.3:c.3675G>A	ENSP00000486547.2:p.Glu1225=
ENST00000630866.2:c.3639G>A	ENSP00000487444.1:p.Glu1213=
ENST00000704202.1:c.3639G>A	ENSP00000515764.1:p.Glu1213=
ENST00000704203.1:c.3675G>A	ENSP00000515765.1:p.Glu1225=
ENST00000704204.1:c.3102G>A	ENSP00000515766.1:p.Glu1034=
ENST00000704206.1:c.1262G>A
ENST00000706487.1:c.3639G>A	ENSP00000516412.1:p.Glu1213=
ENST00000372739.7:c.3639G>A MANE Select	ENSP00000361824.4:p.Glu1213=
ENST00000635853.1:n.4774G>A
ENST00000358161.9:c.3579G>A	ENSP00000350882.6:p.Glu1193=
ENST00000372731.8:c.3639G>A	ENSP00000361816.4:p.Glu1213=
ENST00000372739.5:c.3639G>A	ENSP00000361824.3:p.Glu1213=
ENST00000461855.3:n.212G>A
ENST00000630804.2:c.3579G>A	ENSP00000486308.1:p.Glu1193=
ENST00000630866.1:c.3639G>A	ENSP00000487444.1:p.Glu1213=
NM_001130438.2:c.3639G>A	NP_001123910.1:p.Glu1213=
NM_001195532.1:c.3579G>A	NP_001182461.1:p.Glu1193=
NM_003127.3:c.3639G>A	NP_003118.2:p.Glu1213=
XM_006717245.1:c.3675G>A	XP_006717308.1:p.Glu1225=
XM_006717246.1:c.3675G>A	XP_006717309.1:p.Glu1225=
XM_006717247.1:c.3615G>A	XP_006717310.1:p.Glu1205=
XM_006717248.1:c.3675G>A	XP_006717311.1:p.Glu1225=
XM_006717249.1:c.3675G>A	XP_006717312.1:p.Glu1225=
XM_006717250.1:c.3675G>A	XP_006717313.1:p.Glu1225=
XM_006717251.1:c.3579G>A	XP_006717314.1:p.Glu1193=
XM_006717252.1:c.3615G>A	XP_006717315.1:p.Glu1205=
XM_006717253.1:c.3615G>A	XP_006717316.1:p.Glu1205=
XM_006717254.1:c.3639G>A	XP_006717317.1:p.Glu1213=
NM_001363759.1:c.3639G>A	NP_001350688.1:p.Glu1213=
NM_001363765.1:c.3579G>A	NP_001350694.1:p.Glu1193=
XM_006717247.2:c.3615G>A	XP_006717310.1:p.Glu1205=
XM_006717248.2:c.3675G>A	XP_006717311.1:p.Glu1225=
XM_006717251.2:c.3579G>A	XP_006717314.1:p.Glu1193=
XM_006717252.3:c.3615G>A	XP_006717315.1:p.Glu1205=
XM_017015059.1:c.3639G>A	XP_016870548.1:p.Glu1213=
XM_017015060.1:c.3615G>A	XP_016870549.1:p.Glu1205=
NM_001130438.3:c.3639G>A MANE Select	NP_001123910.1:p.Glu1213=
NM_001195532.2:c.3579G>A	NP_001182461.1:p.Glu1193=
NM_001363759.2:c.3639G>A	NP_001350688.1:p.Glu1213=
NM_001363765.2:c.3579G>A	NP_001350694.1:p.Glu1193=
NM_001375310.1:c.3639G>A	NP_001362239.1:p.Glu1213=
NM_001375311.2:c.3639G>A	NP_001362240.1:p.Glu1213=
NM_001375312.2:c.3675G>A	NP_001362241.2:p.Glu1225=
NM_001375313.1:c.3639G>A	NP_001362242.1:p.Glu1213=
NM_001375314.2:c.3579G>A	NP_001362243.1:p.Glu1193=
NM_001375318.1:c.3675G>A	NP_001362247.1:p.Glu1225=
NM_003127.4:c.3639G>A	NP_003118.2:p.Glu1213=