Canonical Allele Identifier: CA375097761

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394475G>C (hg19) ; chr9:g.128632196G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632196G>C , CM000671.2:g.128632196G>C	GRCh38
NC_000009.11:g.131394475G>C , CM000671.1:g.131394475G>C	GRCh37
NC_000009.10:g.130434296G>C	NCBI36
NG_027748.1:g.84639G>C
NG_034056.1:g.29655C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6868G>C	ENSP00000486547.2:p.Glu2290Gln
ENST00000630866.2:c.6895G>C	ENSP00000487444.1:p.Glu2299Gln
ENST00000704202.1:c.6919G>C	ENSP00000515764.1:p.Glu2307Gln
ENST00000704203.1:c.6868G>C	ENSP00000515765.1:p.Glu2290Gln
ENST00000704204.1:c.6358G>C	ENSP00000515766.1:p.Glu2120Gln
ENST00000704206.1:c.4437G>C
ENST00000704207.1:c.2774G>C
ENST00000706487.1:c.6832G>C	ENSP00000516412.1:p.Glu2278Gln
ENST00000372739.7:c.6832G>C MANE Select	ENSP00000361824.4:p.Glu2278Gln
ENST00000636010.1:n.556G>C
ENST00000358161.9:c.6757G>C	ENSP00000350882.6:p.Glu2253Gln
ENST00000372731.8:c.6817G>C	ENSP00000361816.4:p.Glu2273Gln
ENST00000372739.5:c.6832G>C	ENSP00000361824.3:p.Glu2278Gln
ENST00000625980.2:n.786G>C
ENST00000630763.1:n.589G>C
ENST00000630804.2:c.6772G>C	ENSP00000486308.1:p.Glu2258Gln
ENST00000630866.1:c.6895G>C	ENSP00000487444.1:p.Glu2299Gln
NM_001130438.2:c.6832G>C	NP_001123910.1:p.Glu2278Gln
NM_001195532.1:c.6757G>C	NP_001182461.1:p.Glu2253Gln
NM_003127.3:c.6817G>C	NP_003118.2:p.Glu2273Gln
XM_006717245.1:c.6931G>C	XP_006717308.1:p.Glu2311Gln
XM_006717246.1:c.6916G>C	XP_006717309.1:p.Glu2306Gln
XM_006717247.1:c.6871G>C	XP_006717310.1:p.Glu2291Gln
XM_006717248.1:c.6868G>C	XP_006717311.1:p.Glu2290Gln
XM_006717249.1:c.6853G>C	XP_006717312.1:p.Glu2285Gln
XM_006717250.1:c.6850G>C	XP_006717313.1:p.Glu2284Gln
XM_006717251.1:c.6835G>C	XP_006717314.1:p.Glu2279Gln
XM_006717252.1:c.6808G>C	XP_006717315.1:p.Glu2270Gln
XM_006717253.1:c.6793G>C	XP_006717316.1:p.Glu2265Gln
XM_006717254.1:c.6895G>C	XP_006717317.1:p.Glu2299Gln
NM_001363759.1:c.6895G>C	NP_001350688.1:p.Glu2299Gln
NM_001363765.1:c.6772G>C	NP_001350694.1:p.Glu2258Gln
XM_006717247.2:c.6871G>C	XP_006717310.1:p.Glu2291Gln
XM_006717248.2:c.6868G>C	XP_006717311.1:p.Glu2290Gln
XM_006717251.2:c.6835G>C	XP_006717314.1:p.Glu2279Gln
XM_006717252.3:c.6808G>C	XP_006717315.1:p.Glu2270Gln
XM_017015059.1:c.6814G>C	XP_016870548.1:p.Glu2272Gln
XM_017015060.1:c.6790G>C	XP_016870549.1:p.Glu2264Gln
NM_001130438.3:c.6832G>C MANE Select	NP_001123910.1:p.Glu2278Gln
NM_001195532.2:c.6757G>C	NP_001182461.1:p.Glu2253Gln
NM_001363759.2:c.6895G>C	NP_001350688.1:p.Glu2299Gln
NM_001363765.2:c.6772G>C	NP_001350694.1:p.Glu2258Gln
NM_001375310.1:c.6919G>C	NP_001362239.1:p.Glu2307Gln
NM_001375311.2:c.6832G>C	NP_001362240.1:p.Glu2278Gln
NM_001375312.2:c.6868G>C	NP_001362241.2:p.Glu2290Gln
NM_001375313.1:c.6814G>C	NP_001362242.1:p.Glu2272Gln
NM_001375314.2:c.6772G>C	NP_001362243.1:p.Glu2258Gln
NM_001375318.1:c.6931G>C	NP_001362247.1:p.Glu2311Gln
NM_003127.4:c.6817G>C	NP_003118.2:p.Glu2273Gln