Canonical Allele Identifier: CA375098076

Gene: SPTAN1

Linked Data

• gnomAD v4: 9-128632220-A-G
• MyVariant Identifiers: chr9:g.131394499A>G (hg19) ; chr9:g.128632220A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632220A>G , CM000671.2:g.128632220A>G	GRCh38
NC_000009.11:g.131394499A>G , CM000671.1:g.131394499A>G	GRCh37
NC_000009.10:g.130434320A>G	NCBI36
NG_027748.1:g.84663A>G
NG_034056.1:g.29631T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6892A>G	ENSP00000486547.2:p.Lys2298Glu
ENST00000630866.2:c.6919A>G	ENSP00000487444.1:p.Lys2307Glu
ENST00000704202.1:c.6943A>G	ENSP00000515764.1:p.Lys2315Glu
ENST00000704203.1:c.6892A>G	ENSP00000515765.1:p.Lys2298Glu
ENST00000704204.1:c.6382A>G	ENSP00000515766.1:p.Lys2128Glu
ENST00000704206.1:c.4461A>G
ENST00000704207.1:c.2798A>G
ENST00000706487.1:c.6856A>G	ENSP00000516412.1:p.Lys2286Glu
ENST00000372739.7:c.6856A>G MANE Select	ENSP00000361824.4:p.Lys2286Glu
ENST00000636010.1:n.580A>G
ENST00000358161.9:c.6781A>G	ENSP00000350882.6:p.Lys2261Glu
ENST00000372731.8:c.6841A>G	ENSP00000361816.4:p.Lys2281Glu
ENST00000372739.5:c.6856A>G	ENSP00000361824.3:p.Lys2286Glu
ENST00000625980.2:n.810A>G
ENST00000630763.1:n.613A>G
ENST00000630804.2:c.6796A>G	ENSP00000486308.1:p.Lys2266Glu
ENST00000630866.1:c.6919A>G	ENSP00000487444.1:p.Lys2307Glu
NM_001130438.2:c.6856A>G	NP_001123910.1:p.Lys2286Glu
NM_001195532.1:c.6781A>G	NP_001182461.1:p.Lys2261Glu
NM_003127.3:c.6841A>G	NP_003118.2:p.Lys2281Glu
XM_006717245.1:c.6955A>G	XP_006717308.1:p.Lys2319Glu
XM_006717246.1:c.6940A>G	XP_006717309.1:p.Lys2314Glu
XM_006717247.1:c.6895A>G	XP_006717310.1:p.Lys2299Glu
XM_006717248.1:c.6892A>G	XP_006717311.1:p.Lys2298Glu
XM_006717249.1:c.6877A>G	XP_006717312.1:p.Lys2293Glu
XM_006717250.1:c.6874A>G	XP_006717313.1:p.Lys2292Glu
XM_006717251.1:c.6859A>G	XP_006717314.1:p.Lys2287Glu
XM_006717252.1:c.6832A>G	XP_006717315.1:p.Lys2278Glu
XM_006717253.1:c.6817A>G	XP_006717316.1:p.Lys2273Glu
XM_006717254.1:c.6919A>G	XP_006717317.1:p.Lys2307Glu
NM_001363759.1:c.6919A>G	NP_001350688.1:p.Lys2307Glu
NM_001363765.1:c.6796A>G	NP_001350694.1:p.Lys2266Glu
XM_006717247.2:c.6895A>G	XP_006717310.1:p.Lys2299Glu
XM_006717248.2:c.6892A>G	XP_006717311.1:p.Lys2298Glu
XM_006717251.2:c.6859A>G	XP_006717314.1:p.Lys2287Glu
XM_006717252.3:c.6832A>G	XP_006717315.1:p.Lys2278Glu
XM_017015059.1:c.6838A>G	XP_016870548.1:p.Lys2280Glu
XM_017015060.1:c.6814A>G	XP_016870549.1:p.Lys2272Glu
NM_001130438.3:c.6856A>G MANE Select	NP_001123910.1:p.Lys2286Glu
NM_001195532.2:c.6781A>G	NP_001182461.1:p.Lys2261Glu
NM_001363759.2:c.6919A>G	NP_001350688.1:p.Lys2307Glu
NM_001363765.2:c.6796A>G	NP_001350694.1:p.Lys2266Glu
NM_001375310.1:c.6943A>G	NP_001362239.1:p.Lys2315Glu
NM_001375311.2:c.6856A>G	NP_001362240.1:p.Lys2286Glu
NM_001375312.2:c.6892A>G	NP_001362241.2:p.Lys2298Glu
NM_001375313.1:c.6838A>G	NP_001362242.1:p.Lys2280Glu
NM_001375314.2:c.6796A>G	NP_001362243.1:p.Lys2266Glu
NM_001375318.1:c.6955A>G	NP_001362247.1:p.Lys2319Glu
NM_003127.4:c.6841A>G	NP_003118.2:p.Lys2281Glu