Canonical Allele Identifier: CA6467431

Gene: EPS8

Linked Data

• ClinVar Variation Id: 500289
• ClinVar RCV Id: RCV000592406
• dbSNP Id: rs200844984
• ExAC: 12:15784598 T / G
• gnomAD v2: 12-15784598-T-G
• gnomAD v3: 12-15631664-T-G
• gnomAD v4: 12-15631664-T-G
• MyVariant Identifiers: chr12:g.15784598T>G (hg19) ; chr12:g.15631664T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.15631664T>G , CM000674.2:g.15631664T>G	GRCh38
NC_000012.11:g.15784598T>G , CM000674.1:g.15784598T>G	GRCh37
NC_000012.10:g.15675865T>G	NCBI36
NG_041808.1:g.162913A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281172.10:c.1822A>C MANE Select	ENSP00000281172.5:p.Lys608Gln
ENST00000642278.1:c.1822A>C	ENSP00000494689.1:p.Lys608Gln
ENST00000642939.1:c.1873A>C	ENSP00000495312.1:p.Lys625Gln
ENST00000644374.1:c.1822A>C	ENSP00000495956.1:p.Lys608Gln
ENST00000645775.1:c.1822A>C	ENSP00000495824.1:p.Lys608Gln
ENST00000646123.1:c.1846A>C	ENSP00000494338.1:p.Lys616Gln
ENST00000646828.1:c.1822A>C	ENSP00000494842.1:p.Lys608Gln
ENST00000646918.1:c.1822A>C	ENSP00000495722.1:p.Lys608Gln
ENST00000647087.1:c.1822A>C	ENSP00000496406.1:p.Lys608Gln
ENST00000647224.1:c.1822A>C	ENSP00000496516.1:p.Lys608Gln
ENST00000281172.9:c.1822A>C	ENSP00000281172.5:p.Lys608Gln
ENST00000540613.5:c.1042A>C	ENSP00000441888.1:p.Lys348Gln
ENST00000542903.1:c.1042A>C	ENSP00000437806.1:p.Lys348Gln
ENST00000543468.5:c.*1082A>C	ENSP00000445985.1:n.*1082A>C
ENST00000543523.5:c.1822A>C	ENSP00000441867.1:p.Lys608Gln
ENST00000543612.5:c.1822A>C	ENSP00000442388.1:p.Lys608Gln
ENST00000545610.1:n.99A>C
NM_004447.5:c.1822A>C	NP_004438.3:p.Lys608Gln
XM_005253339.1:c.1855A>C	XP_005253396.1:p.Lys619Gln
XM_005253340.1:c.1822A>C	XP_005253397.1:p.Lys608Gln
XM_006719057.1:c.1822A>C	XP_006719120.1:p.Lys608Gln
XM_011520605.1:c.1882A>C	XP_011518907.1:p.Lys628Gln
XM_011520606.1:c.1822A>C	XP_011518908.1:p.Lys608Gln
XM_011520605.3:c.1882A>C	XP_011518907.1:p.Lys628Gln
XM_024448878.1:c.1855A>C	XP_024304646.1:p.Lys619Gln
XM_024448879.1:c.1822A>C	XP_024304647.1:p.Lys608Gln
XM_024448880.1:c.1822A>C	XP_024304648.1:p.Lys608Gln
XM_024448881.1:c.1822A>C	XP_024304649.1:p.Lys608Gln
XM_024448882.1:c.1822A>C	XP_024304650.1:p.Lys608Gln
NM_004447.6:c.1822A>C MANE Select	NP_004438.3:p.Lys608Gln