Canonical Allele Identifier: CA375098491

Gene: SPTAN1

Linked Data

• ClinVar Variation Id: 1184129
• ClinVar RCV Id: RCV001542087
• dbSNP Id: rs2132089667
• MyVariant Identifiers: chr9:g.131394538T>C (hg19) ; chr9:g.128632259T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632259T>C , CM000671.2:g.128632259T>C	GRCh38
NC_000009.11:g.131394538T>C , CM000671.1:g.131394538T>C	GRCh37
NC_000009.10:g.130434359T>C	NCBI36
NG_027748.1:g.84702T>C
NG_034056.1:g.29592A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6931T>C	ENSP00000486547.2:p.Trp2311Arg
ENST00000630866.2:c.6958T>C	ENSP00000487444.1:p.Trp2320Arg
ENST00000704202.1:c.6982T>C	ENSP00000515764.1:p.Trp2328Arg
ENST00000704203.1:c.6931T>C	ENSP00000515765.1:p.Trp2311Arg
ENST00000704204.1:c.6421T>C	ENSP00000515766.1:p.Trp2141Arg
ENST00000704206.1:c.4500T>C
ENST00000704207.1:c.2837T>C
ENST00000706487.1:c.6895T>C	ENSP00000516412.1:p.Trp2299Arg
ENST00000372739.7:c.6895T>C MANE Select	ENSP00000361824.4:p.Trp2299Arg
ENST00000636010.1:n.619T>C
ENST00000358161.9:c.6820T>C	ENSP00000350882.6:p.Trp2274Arg
ENST00000372731.8:c.6880T>C	ENSP00000361816.4:p.Trp2294Arg
ENST00000372739.5:c.6895T>C	ENSP00000361824.3:p.Trp2299Arg
ENST00000625980.2:n.849T>C
ENST00000630763.1:n.652T>C
ENST00000630804.2:c.6835T>C	ENSP00000486308.1:p.Trp2279Arg
ENST00000630866.1:c.6958T>C	ENSP00000487444.1:p.Trp2320Arg
NM_001130438.2:c.6895T>C	NP_001123910.1:p.Trp2299Arg
NM_001195532.1:c.6820T>C	NP_001182461.1:p.Trp2274Arg
NM_003127.3:c.6880T>C	NP_003118.2:p.Trp2294Arg
XM_006717245.1:c.6994T>C	XP_006717308.1:p.Trp2332Arg
XM_006717246.1:c.6979T>C	XP_006717309.1:p.Trp2327Arg
XM_006717247.1:c.6934T>C	XP_006717310.1:p.Trp2312Arg
XM_006717248.1:c.6931T>C	XP_006717311.1:p.Trp2311Arg
XM_006717249.1:c.6916T>C	XP_006717312.1:p.Trp2306Arg
XM_006717250.1:c.6913T>C	XP_006717313.1:p.Trp2305Arg
XM_006717251.1:c.6898T>C	XP_006717314.1:p.Trp2300Arg
XM_006717252.1:c.6871T>C	XP_006717315.1:p.Trp2291Arg
XM_006717253.1:c.6856T>C	XP_006717316.1:p.Trp2286Arg
XM_006717254.1:c.6958T>C	XP_006717317.1:p.Trp2320Arg
NM_001363759.1:c.6958T>C	NP_001350688.1:p.Trp2320Arg
NM_001363765.1:c.6835T>C	NP_001350694.1:p.Trp2279Arg
XM_006717247.2:c.6934T>C	XP_006717310.1:p.Trp2312Arg
XM_006717248.2:c.6931T>C	XP_006717311.1:p.Trp2311Arg
XM_006717251.2:c.6898T>C	XP_006717314.1:p.Trp2300Arg
XM_006717252.3:c.6871T>C	XP_006717315.1:p.Trp2291Arg
XM_017015059.1:c.6877T>C	XP_016870548.1:p.Trp2293Arg
XM_017015060.1:c.6853T>C	XP_016870549.1:p.Trp2285Arg
NM_001130438.3:c.6895T>C MANE Select	NP_001123910.1:p.Trp2299Arg
NM_001195532.2:c.6820T>C	NP_001182461.1:p.Trp2274Arg
NM_001363759.2:c.6958T>C	NP_001350688.1:p.Trp2320Arg
NM_001363765.2:c.6835T>C	NP_001350694.1:p.Trp2279Arg
NM_001375310.1:c.6982T>C	NP_001362239.1:p.Trp2328Arg
NM_001375311.2:c.6895T>C	NP_001362240.1:p.Trp2299Arg
NM_001375312.2:c.6931T>C	NP_001362241.2:p.Trp2311Arg
NM_001375313.1:c.6877T>C	NP_001362242.1:p.Trp2293Arg
NM_001375314.2:c.6835T>C	NP_001362243.1:p.Trp2279Arg
NM_001375318.1:c.6994T>C	NP_001362247.1:p.Trp2332Arg
NM_003127.4:c.6880T>C	NP_003118.2:p.Trp2294Arg