Canonical Allele Identifier: CA5265919

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 642556
• ClinVar RCV Id: RCV000796040
• dbSNP Id: rs375244907
• ExAC: 9:131394469 G / A
• gnomAD v2: 9-131394469-G-A
• gnomAD v3: 9-128632190-G-A
• gnomAD v4: 9-128632190-G-A
• MyVariant Identifiers: chr9:g.131394469G>A (hg19) ; chr9:g.128632190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632190G>A , CM000671.2:g.128632190G>A	GRCh38
NC_000009.11:g.131394469G>A , CM000671.1:g.131394469G>A	GRCh37
NC_000009.10:g.130434290G>A	NCBI36
NG_027748.1:g.84633G>A
NG_034056.1:g.29661C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6862G>A	ENSP00000486547.2:p.Ala2288Thr
ENST00000630866.2:c.6889G>A	ENSP00000487444.1:p.Ala2297Thr
ENST00000704202.1:c.6913G>A	ENSP00000515764.1:p.Ala2305Thr
ENST00000704203.1:c.6862G>A	ENSP00000515765.1:p.Ala2288Thr
ENST00000704204.1:c.6352G>A	ENSP00000515766.1:p.Ala2118Thr
ENST00000704206.1:c.4431G>A
ENST00000704207.1:c.2768G>A
ENST00000706487.1:c.6826G>A	ENSP00000516412.1:p.Ala2276Thr
ENST00000372739.7:c.6826G>A MANE Select	ENSP00000361824.4:p.Ala2276Thr
ENST00000636010.1:n.550G>A
ENST00000358161.9:c.6751G>A	ENSP00000350882.6:p.Ala2251Thr
ENST00000372731.8:c.6811G>A	ENSP00000361816.4:p.Ala2271Thr
ENST00000372739.5:c.6826G>A	ENSP00000361824.3:p.Ala2276Thr
ENST00000625980.2:n.780G>A
ENST00000630763.1:n.583G>A
ENST00000630804.2:c.6766G>A	ENSP00000486308.1:p.Ala2256Thr
ENST00000630866.1:c.6889G>A	ENSP00000487444.1:p.Ala2297Thr
NM_001130438.2:c.6826G>A	NP_001123910.1:p.Ala2276Thr
NM_001195532.1:c.6751G>A	NP_001182461.1:p.Ala2251Thr
NM_003127.3:c.6811G>A	NP_003118.2:p.Ala2271Thr
XM_006717245.1:c.6925G>A	XP_006717308.1:p.Ala2309Thr
XM_006717246.1:c.6910G>A	XP_006717309.1:p.Ala2304Thr
XM_006717247.1:c.6865G>A	XP_006717310.1:p.Ala2289Thr
XM_006717248.1:c.6862G>A	XP_006717311.1:p.Ala2288Thr
XM_006717249.1:c.6847G>A	XP_006717312.1:p.Ala2283Thr
XM_006717250.1:c.6844G>A	XP_006717313.1:p.Ala2282Thr
XM_006717251.1:c.6829G>A	XP_006717314.1:p.Ala2277Thr
XM_006717252.1:c.6802G>A	XP_006717315.1:p.Ala2268Thr
XM_006717253.1:c.6787G>A	XP_006717316.1:p.Ala2263Thr
XM_006717254.1:c.6889G>A	XP_006717317.1:p.Ala2297Thr
NM_001363759.1:c.6889G>A	NP_001350688.1:p.Ala2297Thr
NM_001363765.1:c.6766G>A	NP_001350694.1:p.Ala2256Thr
XM_006717247.2:c.6865G>A	XP_006717310.1:p.Ala2289Thr
XM_006717248.2:c.6862G>A	XP_006717311.1:p.Ala2288Thr
XM_006717251.2:c.6829G>A	XP_006717314.1:p.Ala2277Thr
XM_006717252.3:c.6802G>A	XP_006717315.1:p.Ala2268Thr
XM_017015059.1:c.6808G>A	XP_016870548.1:p.Ala2270Thr
XM_017015060.1:c.6784G>A	XP_016870549.1:p.Ala2262Thr
NM_001130438.3:c.6826G>A MANE Select	NP_001123910.1:p.Ala2276Thr
NM_001195532.2:c.6751G>A	NP_001182461.1:p.Ala2251Thr
NM_001363759.2:c.6889G>A	NP_001350688.1:p.Ala2297Thr
NM_001363765.2:c.6766G>A	NP_001350694.1:p.Ala2256Thr
NM_001375310.1:c.6913G>A	NP_001362239.1:p.Ala2305Thr
NM_001375311.2:c.6826G>A	NP_001362240.1:p.Ala2276Thr
NM_001375312.2:c.6862G>A	NP_001362241.2:p.Ala2288Thr
NM_001375313.1:c.6808G>A	NP_001362242.1:p.Ala2270Thr
NM_001375314.2:c.6766G>A	NP_001362243.1:p.Ala2256Thr
NM_001375318.1:c.6925G>A	NP_001362247.1:p.Ala2309Thr
NM_003127.4:c.6811G>A	NP_003118.2:p.Ala2271Thr