Canonical Allele Identifier: CA467304823

Gene: SPTAN1

Linked Data

• dbSNP Id: rs1214851916
• gnomAD v2: 9-131394489-C-T
• gnomAD v4: 9-128632210-C-T
• MyVariant Identifiers: chr9:g.131394489C>T (hg19) ; chr9:g.128632210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632210C>T , CM000671.2:g.128632210C>T	GRCh38
NC_000009.11:g.131394489C>T , CM000671.1:g.131394489C>T	GRCh37
NC_000009.10:g.130434310C>T	NCBI36
NG_027748.1:g.84653C>T
NG_034056.1:g.29641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6882C>T	ENSP00000486547.2:p.Ile2294=
ENST00000630866.2:c.6909C>T	ENSP00000487444.1:p.Ile2303=
ENST00000704202.1:c.6933C>T	ENSP00000515764.1:p.Ile2311=
ENST00000704203.1:c.6882C>T	ENSP00000515765.1:p.Ile2294=
ENST00000704204.1:c.6372C>T	ENSP00000515766.1:p.Ile2124=
ENST00000704206.1:c.4451C>T
ENST00000704207.1:c.2788C>T
ENST00000706487.1:c.6846C>T	ENSP00000516412.1:p.Ile2282=
ENST00000372739.7:c.6846C>T MANE Select	ENSP00000361824.4:p.Ile2282=
ENST00000636010.1:n.570C>T
ENST00000358161.9:c.6771C>T	ENSP00000350882.6:p.Ile2257=
ENST00000372731.8:c.6831C>T	ENSP00000361816.4:p.Ile2277=
ENST00000372739.5:c.6846C>T	ENSP00000361824.3:p.Ile2282=
ENST00000625980.2:n.800C>T
ENST00000630763.1:n.603C>T
ENST00000630804.2:c.6786C>T	ENSP00000486308.1:p.Ile2262=
ENST00000630866.1:c.6909C>T	ENSP00000487444.1:p.Ile2303=
NM_001130438.2:c.6846C>T	NP_001123910.1:p.Ile2282=
NM_001195532.1:c.6771C>T	NP_001182461.1:p.Ile2257=
NM_003127.3:c.6831C>T	NP_003118.2:p.Ile2277=
XM_006717245.1:c.6945C>T	XP_006717308.1:p.Ile2315=
XM_006717246.1:c.6930C>T	XP_006717309.1:p.Ile2310=
XM_006717247.1:c.6885C>T	XP_006717310.1:p.Ile2295=
XM_006717248.1:c.6882C>T	XP_006717311.1:p.Ile2294=
XM_006717249.1:c.6867C>T	XP_006717312.1:p.Ile2289=
XM_006717250.1:c.6864C>T	XP_006717313.1:p.Ile2288=
XM_006717251.1:c.6849C>T	XP_006717314.1:p.Ile2283=
XM_006717252.1:c.6822C>T	XP_006717315.1:p.Ile2274=
XM_006717253.1:c.6807C>T	XP_006717316.1:p.Ile2269=
XM_006717254.1:c.6909C>T	XP_006717317.1:p.Ile2303=
NM_001363759.1:c.6909C>T	NP_001350688.1:p.Ile2303=
NM_001363765.1:c.6786C>T	NP_001350694.1:p.Ile2262=
XM_006717247.2:c.6885C>T	XP_006717310.1:p.Ile2295=
XM_006717248.2:c.6882C>T	XP_006717311.1:p.Ile2294=
XM_006717251.2:c.6849C>T	XP_006717314.1:p.Ile2283=
XM_006717252.3:c.6822C>T	XP_006717315.1:p.Ile2274=
XM_017015059.1:c.6828C>T	XP_016870548.1:p.Ile2276=
XM_017015060.1:c.6804C>T	XP_016870549.1:p.Ile2268=
NM_001130438.3:c.6846C>T MANE Select	NP_001123910.1:p.Ile2282=
NM_001195532.2:c.6771C>T	NP_001182461.1:p.Ile2257=
NM_001363759.2:c.6909C>T	NP_001350688.1:p.Ile2303=
NM_001363765.2:c.6786C>T	NP_001350694.1:p.Ile2262=
NM_001375310.1:c.6933C>T	NP_001362239.1:p.Ile2311=
NM_001375311.2:c.6846C>T	NP_001362240.1:p.Ile2282=
NM_001375312.2:c.6882C>T	NP_001362241.2:p.Ile2294=
NM_001375313.1:c.6828C>T	NP_001362242.1:p.Ile2276=
NM_001375314.2:c.6786C>T	NP_001362243.1:p.Ile2262=
NM_001375318.1:c.6945C>T	NP_001362247.1:p.Ile2315=
NM_003127.4:c.6831C>T	NP_003118.2:p.Ile2277=