Canonical Allele Identifier: CA375076755

Gene: SPTAN1

Linked Data

• dbSNP Id: rs1305123832
• gnomAD v2: 9-131380267-G-A
• MyVariant Identifiers: chr9:g.131380267G>A (hg19) ; chr9:g.128617988G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128617988G>A , CM000671.2:g.128617988G>A	GRCh38
NC_000009.11:g.131380267G>A , CM000671.1:g.131380267G>A	GRCh37
NC_000009.10:g.130420088G>A	NCBI36
NG_027748.1:g.70431G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.5516G>A	ENSP00000486547.2:p.Gly1839Asp
ENST00000630866.2:c.5480G>A	ENSP00000487444.1:p.Gly1827Asp
ENST00000704202.1:c.5480G>A	ENSP00000515764.1:p.Gly1827Asp
ENST00000704203.1:c.5516G>A	ENSP00000515765.1:p.Gly1839Asp
ENST00000704204.1:c.4943G>A	ENSP00000515766.1:p.Gly1648Asp
ENST00000704206.1:c.3103G>A
ENST00000704207.1:c.1090G>A
ENST00000706487.1:c.5480G>A	ENSP00000516412.1:p.Gly1827Asp
ENST00000372739.7:c.5480G>A MANE Select	ENSP00000361824.4:p.Gly1827Asp
ENST00000637434.1:n.708G>A
ENST00000358161.9:c.5405G>A	ENSP00000350882.6:p.Gly1802Asp
ENST00000372731.8:c.5465G>A	ENSP00000361816.4:p.Gly1822Asp
ENST00000372739.5:c.5480G>A	ENSP00000361824.3:p.Gly1827Asp
ENST00000630804.2:c.5420G>A	ENSP00000486308.1:p.Gly1807Asp
ENST00000630866.1:c.5480G>A	ENSP00000487444.1:p.Gly1827Asp
NM_001130438.2:c.5480G>A	NP_001123910.1:p.Gly1827Asp
NM_001195532.1:c.5405G>A	NP_001182461.1:p.Gly1802Asp
NM_003127.3:c.5465G>A	NP_003118.2:p.Gly1822Asp
XM_006717245.1:c.5516G>A	XP_006717308.1:p.Gly1839Asp
XM_006717246.1:c.5501G>A	XP_006717309.1:p.Gly1834Asp
XM_006717247.1:c.5456G>A	XP_006717310.1:p.Gly1819Asp
XM_006717248.1:c.5516G>A	XP_006717311.1:p.Gly1839Asp
XM_006717249.1:c.5501G>A	XP_006717312.1:p.Gly1834Asp
XM_006717250.1:c.5516G>A	XP_006717313.1:p.Gly1839Asp
XM_006717251.1:c.5420G>A	XP_006717314.1:p.Gly1807Asp
XM_006717252.1:c.5456G>A	XP_006717315.1:p.Gly1819Asp
XM_006717253.1:c.5441G>A	XP_006717316.1:p.Gly1814Asp
XM_006717254.1:c.5480G>A	XP_006717317.1:p.Gly1827Asp
NM_001363759.1:c.5480G>A	NP_001350688.1:p.Gly1827Asp
NM_001363765.1:c.5420G>A	NP_001350694.1:p.Gly1807Asp
XM_006717247.2:c.5456G>A	XP_006717310.1:p.Gly1819Asp
XM_006717248.2:c.5516G>A	XP_006717311.1:p.Gly1839Asp
XM_006717251.2:c.5420G>A	XP_006717314.1:p.Gly1807Asp
XM_006717252.3:c.5456G>A	XP_006717315.1:p.Gly1819Asp
XM_017015059.1:c.5480G>A	XP_016870548.1:p.Gly1827Asp
XM_017015060.1:c.5456G>A	XP_016870549.1:p.Gly1819Asp
NM_001130438.3:c.5480G>A MANE Select	NP_001123910.1:p.Gly1827Asp
NM_001195532.2:c.5405G>A	NP_001182461.1:p.Gly1802Asp
NM_001363759.2:c.5480G>A	NP_001350688.1:p.Gly1827Asp
NM_001363765.2:c.5420G>A	NP_001350694.1:p.Gly1807Asp
NM_001375310.1:c.5480G>A	NP_001362239.1:p.Gly1827Asp
NM_001375311.2:c.5480G>A	NP_001362240.1:p.Gly1827Asp
NM_001375312.2:c.5516G>A	NP_001362241.2:p.Gly1839Asp
NM_001375313.1:c.5480G>A	NP_001362242.1:p.Gly1827Asp
NM_001375314.2:c.5420G>A	NP_001362243.1:p.Gly1807Asp
NM_001375318.1:c.5516G>A	NP_001362247.1:p.Gly1839Asp
NM_003127.4:c.5465G>A	NP_003118.2:p.Gly1822Asp