Canonical Allele Identifier: CA6467360

Gene: EPS8

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.15624358C>T , CM000674.2:g.15624358C>T	GRCh38
NC_000012.11:g.15777292C>T , CM000674.1:g.15777292C>T	GRCh37
NC_000012.10:g.15668559C>T	NCBI36
NG_041808.1:g.170219G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004447.6:c.2094G>A MANE Select	NP_004438.3:p.Leu698=
ENST00000281172.10:c.2094G>A MANE Select	ENSP00000281172.5:p.Leu698=
NM_004447.5:c.2094G>A	NP_004438.3:p.Leu698=
ENST00000281172.9:c.2094G>A	ENSP00000281172.5:p.Leu698=
ENST00000540613.5:c.1314G>A	ENSP00000441888.1:p.Leu438=
ENST00000542903.1:c.1314G>A	ENSP00000437806.1:p.Leu438=
ENST00000543468.5:c.*1354G>A	ENSP00000445985.1:n.*1354G>A
ENST00000543523.5:c.2094G>A	ENSP00000441867.1:p.Leu698=
ENST00000543612.5:c.2094G>A	ENSP00000442388.1:p.Leu698=
ENST00000545610.1:n.371G>A
ENST00000642278.1:c.2094G>A	ENSP00000494689.1:p.Leu698=
ENST00000642939.1:c.2145G>A	ENSP00000495312.1:p.Leu715=
ENST00000644374.1:c.2094G>A	ENSP00000495956.1:p.Leu698=
ENST00000645775.1:c.2094G>A	ENSP00000495824.1:p.Leu698=
ENST00000646123.1:c.2118G>A	ENSP00000494338.1:p.Leu706=
ENST00000646828.1:c.2094G>A	ENSP00000494842.1:p.Leu698=
ENST00000646918.1:c.2094G>A	ENSP00000495722.1:p.Leu698=
ENST00000647087.1:c.2094G>A	ENSP00000496406.1:p.Leu698=
ENST00000647224.1:c.2094G>A	ENSP00000496516.1:p.Leu698=
XM_005253339.1:c.2127G>A	XP_005253396.1:p.Leu709=
XM_005253340.1:c.2094G>A	XP_005253397.1:p.Leu698=
XM_006719057.1:c.2094G>A	XP_006719120.1:p.Leu698=
XM_011520605.1:c.2154G>A	XP_011518907.1:p.Leu718=
XM_011520605.3:c.2154G>A	XP_011518907.1:p.Leu718=
XM_011520606.1:c.2094G>A	XP_011518908.1:p.Leu698=
XM_024448878.1:c.2127G>A	XP_024304646.1:p.Leu709=
XM_024448879.1:c.2094G>A	XP_024304647.1:p.Leu698=
XM_024448880.1:c.2094G>A	XP_024304648.1:p.Leu698=
XM_024448881.1:c.2094G>A	XP_024304649.1:p.Leu698=
XM_024448882.1:c.2094G>A	XP_024304650.1:p.Leu698=