Canonical Allele Identifier: CA375098652

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394548T>G (hg19) ; chr9:g.128632269T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632269T>G , CM000671.2:g.128632269T>G	GRCh38
NC_000009.11:g.131394548T>G , CM000671.1:g.131394548T>G	GRCh37
NC_000009.10:g.130434369T>G	NCBI36
NG_027748.1:g.84712T>G
NG_034056.1:g.29582A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6941T>G	ENSP00000486547.2:p.Leu2314Arg
ENST00000630866.2:c.6968T>G	ENSP00000487444.1:p.Leu2323Arg
ENST00000704202.1:c.6992T>G	ENSP00000515764.1:p.Leu2331Arg
ENST00000704203.1:c.6941T>G	ENSP00000515765.1:p.Leu2314Arg
ENST00000704204.1:c.6431T>G	ENSP00000515766.1:p.Leu2144Arg
ENST00000704206.1:c.4510T>G
ENST00000704207.1:c.2847T>G
ENST00000706487.1:c.6905T>G	ENSP00000516412.1:p.Leu2302Arg
ENST00000372739.7:c.6905T>G MANE Select	ENSP00000361824.4:p.Leu2302Arg
ENST00000636010.1:n.629T>G
ENST00000358161.9:c.6830T>G	ENSP00000350882.6:p.Leu2277Arg
ENST00000372731.8:c.6890T>G	ENSP00000361816.4:p.Leu2297Arg
ENST00000372739.5:c.6905T>G	ENSP00000361824.3:p.Leu2302Arg
ENST00000625980.2:n.859T>G
ENST00000630763.1:n.662T>G
ENST00000630804.2:c.6845T>G	ENSP00000486308.1:p.Leu2282Arg
ENST00000630866.1:c.6968T>G	ENSP00000487444.1:p.Leu2323Arg
NM_001130438.2:c.6905T>G	NP_001123910.1:p.Leu2302Arg
NM_001195532.1:c.6830T>G	NP_001182461.1:p.Leu2277Arg
NM_003127.3:c.6890T>G	NP_003118.2:p.Leu2297Arg
XM_006717245.1:c.7004T>G	XP_006717308.1:p.Leu2335Arg
XM_006717246.1:c.6989T>G	XP_006717309.1:p.Leu2330Arg
XM_006717247.1:c.6944T>G	XP_006717310.1:p.Leu2315Arg
XM_006717248.1:c.6941T>G	XP_006717311.1:p.Leu2314Arg
XM_006717249.1:c.6926T>G	XP_006717312.1:p.Leu2309Arg
XM_006717250.1:c.6923T>G	XP_006717313.1:p.Leu2308Arg
XM_006717251.1:c.6908T>G	XP_006717314.1:p.Leu2303Arg
XM_006717252.1:c.6881T>G	XP_006717315.1:p.Leu2294Arg
XM_006717253.1:c.6866T>G	XP_006717316.1:p.Leu2289Arg
XM_006717254.1:c.6968T>G	XP_006717317.1:p.Leu2323Arg
NM_001363759.1:c.6968T>G	NP_001350688.1:p.Leu2323Arg
NM_001363765.1:c.6845T>G	NP_001350694.1:p.Leu2282Arg
XM_006717247.2:c.6944T>G	XP_006717310.1:p.Leu2315Arg
XM_006717248.2:c.6941T>G	XP_006717311.1:p.Leu2314Arg
XM_006717251.2:c.6908T>G	XP_006717314.1:p.Leu2303Arg
XM_006717252.3:c.6881T>G	XP_006717315.1:p.Leu2294Arg
XM_017015059.1:c.6887T>G	XP_016870548.1:p.Leu2296Arg
XM_017015060.1:c.6863T>G	XP_016870549.1:p.Leu2288Arg
NM_001130438.3:c.6905T>G MANE Select	NP_001123910.1:p.Leu2302Arg
NM_001195532.2:c.6830T>G	NP_001182461.1:p.Leu2277Arg
NM_001363759.2:c.6968T>G	NP_001350688.1:p.Leu2323Arg
NM_001363765.2:c.6845T>G	NP_001350694.1:p.Leu2282Arg
NM_001375310.1:c.6992T>G	NP_001362239.1:p.Leu2331Arg
NM_001375311.2:c.6905T>G	NP_001362240.1:p.Leu2302Arg
NM_001375312.2:c.6941T>G	NP_001362241.2:p.Leu2314Arg
NM_001375313.1:c.6887T>G	NP_001362242.1:p.Leu2296Arg
NM_001375314.2:c.6845T>G	NP_001362243.1:p.Leu2282Arg
NM_001375318.1:c.7004T>G	NP_001362247.1:p.Leu2335Arg
NM_003127.4:c.6890T>G	NP_003118.2:p.Leu2297Arg