Canonical Allele Identifier: CA6467296

Gene: EPS8

Linked Data

• ClinVar Variation Id: 517554
• ClinVar RCV Id: RCV000612883 ; RCV001552455
• dbSNP Id: rs761418186
• ExAC: 12:15776134 C / T
• gnomAD v2: 12-15776134-C-T
• gnomAD v3: 12-15623200-C-T
• gnomAD v4: 12-15623200-C-T
• MyVariant Identifiers: chr12:g.15776134C>T (hg19) ; chr12:g.15623200C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.15623200C>T , CM000674.2:g.15623200C>T	GRCh38
NC_000012.11:g.15776134C>T , CM000674.1:g.15776134C>T	GRCh37
NC_000012.10:g.15667401C>T	NCBI36
NG_041808.1:g.171377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281172.10:c.2313G>A MANE Select	ENSP00000281172.5:p.Ala771=
ENST00000642278.1:c.2313G>A	ENSP00000494689.1:p.Ala771=
ENST00000642939.1:c.2364G>A	ENSP00000495312.1:p.Ala788=
ENST00000644374.1:c.2313G>A	ENSP00000495956.1:p.Ala771=
ENST00000645775.1:c.2313G>A	ENSP00000495824.1:p.Ala771=
ENST00000646123.1:c.2337G>A	ENSP00000494338.1:p.Ala779=
ENST00000646828.1:c.2313G>A	ENSP00000494842.1:p.Ala771=
ENST00000646918.1:c.2313G>A	ENSP00000495722.1:p.Ala771=
ENST00000647087.1:c.2313G>A	ENSP00000496406.1:p.Ala771=
ENST00000647224.1:c.2313G>A	ENSP00000496516.1:p.Ala771=
ENST00000281172.9:c.2313G>A	ENSP00000281172.5:p.Ala771=
ENST00000540613.5:c.1533G>A	ENSP00000441888.1:p.Ala511=
ENST00000542903.1:c.1533G>A	ENSP00000437806.1:p.Ala511=
ENST00000543468.5:c.*1573G>A	ENSP00000445985.1:n.*1573G>A
ENST00000543523.5:c.2313G>A	ENSP00000441867.1:p.Ala771=
ENST00000543612.5:c.2313G>A	ENSP00000442388.1:p.Ala771=
NM_004447.5:c.2313G>A	NP_004438.3:p.Ala771=
XM_005253339.1:c.2346G>A	XP_005253396.1:p.Ala782=
XM_005253340.1:c.2313G>A	XP_005253397.1:p.Ala771=
XM_006719057.1:c.2313G>A	XP_006719120.1:p.Ala771=
XM_011520605.1:c.2373G>A	XP_011518907.1:p.Ala791=
XM_011520606.1:c.2313G>A	XP_011518908.1:p.Ala771=
XM_011520605.3:c.2373G>A	XP_011518907.1:p.Ala791=
XM_024448878.1:c.2346G>A	XP_024304646.1:p.Ala782=
XM_024448879.1:c.2313G>A	XP_024304647.1:p.Ala771=
XM_024448880.1:c.2313G>A	XP_024304648.1:p.Ala771=
XM_024448881.1:c.2313G>A	XP_024304649.1:p.Ala771=
XM_024448882.1:c.2313G>A	XP_024304650.1:p.Ala771=
NM_004447.6:c.2313G>A MANE Select	NP_004438.3:p.Ala771=