Canonical Allele Identifier: CA375098397

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394526C>T (hg19) ; chr9:g.128632247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632247C>T , CM000671.2:g.128632247C>T	GRCh38
NC_000009.11:g.131394526C>T , CM000671.1:g.131394526C>T	GRCh37
NC_000009.10:g.130434347C>T	NCBI36
NG_027748.1:g.84690C>T
NG_034056.1:g.29604G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6919C>T	ENSP00000486547.2:p.Leu2307Phe
ENST00000630866.2:c.6946C>T	ENSP00000487444.1:p.Leu2316Phe
ENST00000704202.1:c.6970C>T	ENSP00000515764.1:p.Leu2324Phe
ENST00000704203.1:c.6919C>T	ENSP00000515765.1:p.Leu2307Phe
ENST00000704204.1:c.6409C>T	ENSP00000515766.1:p.Leu2137Phe
ENST00000704206.1:c.4488C>T
ENST00000704207.1:c.2825C>T
ENST00000706487.1:c.6883C>T	ENSP00000516412.1:p.Leu2295Phe
ENST00000372739.7:c.6883C>T MANE Select	ENSP00000361824.4:p.Leu2295Phe
ENST00000636010.1:n.607C>T
ENST00000358161.9:c.6808C>T	ENSP00000350882.6:p.Leu2270Phe
ENST00000372731.8:c.6868C>T	ENSP00000361816.4:p.Leu2290Phe
ENST00000372739.5:c.6883C>T	ENSP00000361824.3:p.Leu2295Phe
ENST00000625980.2:n.837C>T
ENST00000630763.1:n.640C>T
ENST00000630804.2:c.6823C>T	ENSP00000486308.1:p.Leu2275Phe
ENST00000630866.1:c.6946C>T	ENSP00000487444.1:p.Leu2316Phe
NM_001130438.2:c.6883C>T	NP_001123910.1:p.Leu2295Phe
NM_001195532.1:c.6808C>T	NP_001182461.1:p.Leu2270Phe
NM_003127.3:c.6868C>T	NP_003118.2:p.Leu2290Phe
XM_006717245.1:c.6982C>T	XP_006717308.1:p.Leu2328Phe
XM_006717246.1:c.6967C>T	XP_006717309.1:p.Leu2323Phe
XM_006717247.1:c.6922C>T	XP_006717310.1:p.Leu2308Phe
XM_006717248.1:c.6919C>T	XP_006717311.1:p.Leu2307Phe
XM_006717249.1:c.6904C>T	XP_006717312.1:p.Leu2302Phe
XM_006717250.1:c.6901C>T	XP_006717313.1:p.Leu2301Phe
XM_006717251.1:c.6886C>T	XP_006717314.1:p.Leu2296Phe
XM_006717252.1:c.6859C>T	XP_006717315.1:p.Leu2287Phe
XM_006717253.1:c.6844C>T	XP_006717316.1:p.Leu2282Phe
XM_006717254.1:c.6946C>T	XP_006717317.1:p.Leu2316Phe
NM_001363759.1:c.6946C>T	NP_001350688.1:p.Leu2316Phe
NM_001363765.1:c.6823C>T	NP_001350694.1:p.Leu2275Phe
XM_006717247.2:c.6922C>T	XP_006717310.1:p.Leu2308Phe
XM_006717248.2:c.6919C>T	XP_006717311.1:p.Leu2307Phe
XM_006717251.2:c.6886C>T	XP_006717314.1:p.Leu2296Phe
XM_006717252.3:c.6859C>T	XP_006717315.1:p.Leu2287Phe
XM_017015059.1:c.6865C>T	XP_016870548.1:p.Leu2289Phe
XM_017015060.1:c.6841C>T	XP_016870549.1:p.Leu2281Phe
NM_001130438.3:c.6883C>T MANE Select	NP_001123910.1:p.Leu2295Phe
NM_001195532.2:c.6808C>T	NP_001182461.1:p.Leu2270Phe
NM_001363759.2:c.6946C>T	NP_001350688.1:p.Leu2316Phe
NM_001363765.2:c.6823C>T	NP_001350694.1:p.Leu2275Phe
NM_001375310.1:c.6970C>T	NP_001362239.1:p.Leu2324Phe
NM_001375311.2:c.6883C>T	NP_001362240.1:p.Leu2295Phe
NM_001375312.2:c.6919C>T	NP_001362241.2:p.Leu2307Phe
NM_001375313.1:c.6865C>T	NP_001362242.1:p.Leu2289Phe
NM_001375314.2:c.6823C>T	NP_001362243.1:p.Leu2275Phe
NM_001375318.1:c.6982C>T	NP_001362247.1:p.Leu2328Phe
NM_003127.4:c.6868C>T	NP_003118.2:p.Leu2290Phe