Canonical Allele Identifier: CA375077351

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131380366T>G (hg19) ; chr9:g.128618087T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128618087T>G , CM000671.2:g.128618087T>G	GRCh38
NC_000009.11:g.131380366T>G , CM000671.1:g.131380366T>G	GRCh37
NC_000009.10:g.130420187T>G	NCBI36
NG_027748.1:g.70530T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.5615T>G	ENSP00000486547.2:p.Leu1872Arg
ENST00000630866.2:c.5579T>G	ENSP00000487444.1:p.Leu1860Arg
ENST00000704202.1:c.5579T>G	ENSP00000515764.1:p.Leu1860Arg
ENST00000704203.1:c.5615T>G	ENSP00000515765.1:p.Leu1872Arg
ENST00000704204.1:c.5042T>G	ENSP00000515766.1:p.Leu1681Arg
ENST00000704206.1:c.3202T>G
ENST00000704207.1:c.1189T>G
ENST00000706487.1:c.5579T>G	ENSP00000516412.1:p.Leu1860Arg
ENST00000372739.7:c.5579T>G MANE Select	ENSP00000361824.4:p.Leu1860Arg
ENST00000637434.1:n.807T>G
ENST00000358161.9:c.5504T>G	ENSP00000350882.6:p.Leu1835Arg
ENST00000372731.8:c.5564T>G	ENSP00000361816.4:p.Leu1855Arg
ENST00000372739.5:c.5579T>G	ENSP00000361824.3:p.Leu1860Arg
ENST00000630804.2:c.5519T>G	ENSP00000486308.1:p.Leu1840Arg
ENST00000630866.1:c.5579T>G	ENSP00000487444.1:p.Leu1860Arg
NM_001130438.2:c.5579T>G	NP_001123910.1:p.Leu1860Arg
NM_001195532.1:c.5504T>G	NP_001182461.1:p.Leu1835Arg
NM_003127.3:c.5564T>G	NP_003118.2:p.Leu1855Arg
XM_006717245.1:c.5615T>G	XP_006717308.1:p.Leu1872Arg
XM_006717246.1:c.5600T>G	XP_006717309.1:p.Leu1867Arg
XM_006717247.1:c.5555T>G	XP_006717310.1:p.Leu1852Arg
XM_006717248.1:c.5615T>G	XP_006717311.1:p.Leu1872Arg
XM_006717249.1:c.5600T>G	XP_006717312.1:p.Leu1867Arg
XM_006717250.1:c.5615T>G	XP_006717313.1:p.Leu1872Arg
XM_006717251.1:c.5519T>G	XP_006717314.1:p.Leu1840Arg
XM_006717252.1:c.5555T>G	XP_006717315.1:p.Leu1852Arg
XM_006717253.1:c.5540T>G	XP_006717316.1:p.Leu1847Arg
XM_006717254.1:c.5579T>G	XP_006717317.1:p.Leu1860Arg
NM_001363759.1:c.5579T>G	NP_001350688.1:p.Leu1860Arg
NM_001363765.1:c.5519T>G	NP_001350694.1:p.Leu1840Arg
XM_006717247.2:c.5555T>G	XP_006717310.1:p.Leu1852Arg
XM_006717248.2:c.5615T>G	XP_006717311.1:p.Leu1872Arg
XM_006717251.2:c.5519T>G	XP_006717314.1:p.Leu1840Arg
XM_006717252.3:c.5555T>G	XP_006717315.1:p.Leu1852Arg
XM_017015059.1:c.5579T>G	XP_016870548.1:p.Leu1860Arg
XM_017015060.1:c.5555T>G	XP_016870549.1:p.Leu1852Arg
NM_001130438.3:c.5579T>G MANE Select	NP_001123910.1:p.Leu1860Arg
NM_001195532.2:c.5504T>G	NP_001182461.1:p.Leu1835Arg
NM_001363759.2:c.5579T>G	NP_001350688.1:p.Leu1860Arg
NM_001363765.2:c.5519T>G	NP_001350694.1:p.Leu1840Arg
NM_001375310.1:c.5579T>G	NP_001362239.1:p.Leu1860Arg
NM_001375311.2:c.5579T>G	NP_001362240.1:p.Leu1860Arg
NM_001375312.2:c.5615T>G	NP_001362241.2:p.Leu1872Arg
NM_001375313.1:c.5579T>G	NP_001362242.1:p.Leu1860Arg
NM_001375314.2:c.5519T>G	NP_001362243.1:p.Leu1840Arg
NM_001375318.1:c.5615T>G	NP_001362247.1:p.Leu1872Arg
NM_003127.4:c.5564T>G	NP_003118.2:p.Leu1855Arg