Canonical Allele Identifier: CA375098092

Gene: SPTAN1

Linked Data

• MyVariant Identifiers: chr9:g.131394501G>T (hg19) ; chr9:g.128632222G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128632222G>T , CM000671.2:g.128632222G>T	GRCh38
NC_000009.11:g.131394501G>T , CM000671.1:g.131394501G>T	GRCh37
NC_000009.10:g.130434322G>T	NCBI36
NG_027748.1:g.84665G>T
NG_034056.1:g.29629C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000627441.3:c.6894G>T	ENSP00000486547.2:p.Lys2298Asn
ENST00000630866.2:c.6921G>T	ENSP00000487444.1:p.Lys2307Asn
ENST00000704202.1:c.6945G>T	ENSP00000515764.1:p.Lys2315Asn
ENST00000704203.1:c.6894G>T	ENSP00000515765.1:p.Lys2298Asn
ENST00000704204.1:c.6384G>T	ENSP00000515766.1:p.Lys2128Asn
ENST00000704206.1:c.4463G>T
ENST00000704207.1:c.2800G>T
ENST00000706487.1:c.6858G>T	ENSP00000516412.1:p.Lys2286Asn
ENST00000372739.7:c.6858G>T MANE Select	ENSP00000361824.4:p.Lys2286Asn
ENST00000636010.1:n.582G>T
ENST00000358161.9:c.6783G>T	ENSP00000350882.6:p.Lys2261Asn
ENST00000372731.8:c.6843G>T	ENSP00000361816.4:p.Lys2281Asn
ENST00000372739.5:c.6858G>T	ENSP00000361824.3:p.Lys2286Asn
ENST00000625980.2:n.812G>T
ENST00000630763.1:n.615G>T
ENST00000630804.2:c.6798G>T	ENSP00000486308.1:p.Lys2266Asn
ENST00000630866.1:c.6921G>T	ENSP00000487444.1:p.Lys2307Asn
NM_001130438.2:c.6858G>T	NP_001123910.1:p.Lys2286Asn
NM_001195532.1:c.6783G>T	NP_001182461.1:p.Lys2261Asn
NM_003127.3:c.6843G>T	NP_003118.2:p.Lys2281Asn
XM_006717245.1:c.6957G>T	XP_006717308.1:p.Lys2319Asn
XM_006717246.1:c.6942G>T	XP_006717309.1:p.Lys2314Asn
XM_006717247.1:c.6897G>T	XP_006717310.1:p.Lys2299Asn
XM_006717248.1:c.6894G>T	XP_006717311.1:p.Lys2298Asn
XM_006717249.1:c.6879G>T	XP_006717312.1:p.Lys2293Asn
XM_006717250.1:c.6876G>T	XP_006717313.1:p.Lys2292Asn
XM_006717251.1:c.6861G>T	XP_006717314.1:p.Lys2287Asn
XM_006717252.1:c.6834G>T	XP_006717315.1:p.Lys2278Asn
XM_006717253.1:c.6819G>T	XP_006717316.1:p.Lys2273Asn
XM_006717254.1:c.6921G>T	XP_006717317.1:p.Lys2307Asn
NM_001363759.1:c.6921G>T	NP_001350688.1:p.Lys2307Asn
NM_001363765.1:c.6798G>T	NP_001350694.1:p.Lys2266Asn
XM_006717247.2:c.6897G>T	XP_006717310.1:p.Lys2299Asn
XM_006717248.2:c.6894G>T	XP_006717311.1:p.Lys2298Asn
XM_006717251.2:c.6861G>T	XP_006717314.1:p.Lys2287Asn
XM_006717252.3:c.6834G>T	XP_006717315.1:p.Lys2278Asn
XM_017015059.1:c.6840G>T	XP_016870548.1:p.Lys2280Asn
XM_017015060.1:c.6816G>T	XP_016870549.1:p.Lys2272Asn
NM_001130438.3:c.6858G>T MANE Select	NP_001123910.1:p.Lys2286Asn
NM_001195532.2:c.6783G>T	NP_001182461.1:p.Lys2261Asn
NM_001363759.2:c.6921G>T	NP_001350688.1:p.Lys2307Asn
NM_001363765.2:c.6798G>T	NP_001350694.1:p.Lys2266Asn
NM_001375310.1:c.6945G>T	NP_001362239.1:p.Lys2315Asn
NM_001375311.2:c.6858G>T	NP_001362240.1:p.Lys2286Asn
NM_001375312.2:c.6894G>T	NP_001362241.2:p.Lys2298Asn
NM_001375313.1:c.6840G>T	NP_001362242.1:p.Lys2280Asn
NM_001375314.2:c.6798G>T	NP_001362243.1:p.Lys2266Asn
NM_001375318.1:c.6957G>T	NP_001362247.1:p.Lys2319Asn
NM_003127.4:c.6843G>T	NP_003118.2:p.Lys2281Asn