Canonical Allele Identifier: CA375097875

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394485T>C (hg19) ; chr9:g.128632206T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632206T>C , CM000671.2:g.128632206T>C	GRCh38
NC_000009.11:g.131394485T>C , CM000671.1:g.131394485T>C	GRCh37
NC_000009.10:g.130434306T>C	NCBI36
NG_027748.1:g.84649T>C
NG_034056.1:g.29645A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6878T>C	ENSP00000486547.2:p.Leu2293Pro
ENST00000630866.2:c.6905T>C	ENSP00000487444.1:p.Leu2302Pro
ENST00000704202.1:c.6929T>C	ENSP00000515764.1:p.Leu2310Pro
ENST00000704203.1:c.6878T>C	ENSP00000515765.1:p.Leu2293Pro
ENST00000704204.1:c.6368T>C	ENSP00000515766.1:p.Leu2123Pro
ENST00000704206.1:c.4447T>C
ENST00000704207.1:c.2784T>C
ENST00000706487.1:c.6842T>C	ENSP00000516412.1:p.Leu2281Pro
ENST00000372739.7:c.6842T>C MANE Select	ENSP00000361824.4:p.Leu2281Pro
ENST00000636010.1:n.566T>C
ENST00000358161.9:c.6767T>C	ENSP00000350882.6:p.Leu2256Pro
ENST00000372731.8:c.6827T>C	ENSP00000361816.4:p.Leu2276Pro
ENST00000372739.5:c.6842T>C	ENSP00000361824.3:p.Leu2281Pro
ENST00000625980.2:n.796T>C
ENST00000630763.1:n.599T>C
ENST00000630804.2:c.6782T>C	ENSP00000486308.1:p.Leu2261Pro
ENST00000630866.1:c.6905T>C	ENSP00000487444.1:p.Leu2302Pro
NM_001130438.2:c.6842T>C	NP_001123910.1:p.Leu2281Pro
NM_001195532.1:c.6767T>C	NP_001182461.1:p.Leu2256Pro
NM_003127.3:c.6827T>C	NP_003118.2:p.Leu2276Pro
XM_006717245.1:c.6941T>C	XP_006717308.1:p.Leu2314Pro
XM_006717246.1:c.6926T>C	XP_006717309.1:p.Leu2309Pro
XM_006717247.1:c.6881T>C	XP_006717310.1:p.Leu2294Pro
XM_006717248.1:c.6878T>C	XP_006717311.1:p.Leu2293Pro
XM_006717249.1:c.6863T>C	XP_006717312.1:p.Leu2288Pro
XM_006717250.1:c.6860T>C	XP_006717313.1:p.Leu2287Pro
XM_006717251.1:c.6845T>C	XP_006717314.1:p.Leu2282Pro
XM_006717252.1:c.6818T>C	XP_006717315.1:p.Leu2273Pro
XM_006717253.1:c.6803T>C	XP_006717316.1:p.Leu2268Pro
XM_006717254.1:c.6905T>C	XP_006717317.1:p.Leu2302Pro
NM_001363759.1:c.6905T>C	NP_001350688.1:p.Leu2302Pro
NM_001363765.1:c.6782T>C	NP_001350694.1:p.Leu2261Pro
XM_006717247.2:c.6881T>C	XP_006717310.1:p.Leu2294Pro
XM_006717248.2:c.6878T>C	XP_006717311.1:p.Leu2293Pro
XM_006717251.2:c.6845T>C	XP_006717314.1:p.Leu2282Pro
XM_006717252.3:c.6818T>C	XP_006717315.1:p.Leu2273Pro
XM_017015059.1:c.6824T>C	XP_016870548.1:p.Leu2275Pro
XM_017015060.1:c.6800T>C	XP_016870549.1:p.Leu2267Pro
NM_001130438.3:c.6842T>C MANE Select	NP_001123910.1:p.Leu2281Pro
NM_001195532.2:c.6767T>C	NP_001182461.1:p.Leu2256Pro
NM_001363759.2:c.6905T>C	NP_001350688.1:p.Leu2302Pro
NM_001363765.2:c.6782T>C	NP_001350694.1:p.Leu2261Pro
NM_001375310.1:c.6929T>C	NP_001362239.1:p.Leu2310Pro
NM_001375311.2:c.6842T>C	NP_001362240.1:p.Leu2281Pro
NM_001375312.2:c.6878T>C	NP_001362241.2:p.Leu2293Pro
NM_001375313.1:c.6824T>C	NP_001362242.1:p.Leu2275Pro
NM_001375314.2:c.6782T>C	NP_001362243.1:p.Leu2261Pro
NM_001375318.1:c.6941T>C	NP_001362247.1:p.Leu2314Pro
NM_003127.4:c.6827T>C	NP_003118.2:p.Leu2276Pro