Canonical Allele Identifier: CA6467341

Gene: EPS8

Linked Data

• ClinVar Variation Id: 517643
• ClinVar RCV Id: RCV000605241 ; RCV000763826 ; RCV002531683 ; RCV002509475
• dbSNP Id: rs150904526
• ExAC: 12:15777209 G / A
• gnomAD v2: 12-15777209-G-A
• gnomAD v3: 12-15624275-G-A
• gnomAD v4: 12-15624275-G-A
• MyVariant Identifiers: chr12:g.15777209G>A (hg19) ; chr12:g.15624275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.15624275G>A , CM000674.2:g.15624275G>A	GRCh38
NC_000012.11:g.15777209G>A , CM000674.1:g.15777209G>A	GRCh37
NC_000012.10:g.15668476G>A	NCBI36
NG_041808.1:g.170302C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281172.10:c.2177C>T MANE Select	ENSP00000281172.5:p.Thr726Ile
ENST00000642278.1:c.2177C>T	ENSP00000494689.1:p.Thr726Ile
ENST00000642939.1:c.2228C>T	ENSP00000495312.1:p.Thr743Ile
ENST00000644374.1:c.2177C>T	ENSP00000495956.1:p.Thr726Ile
ENST00000645775.1:c.2177C>T	ENSP00000495824.1:p.Thr726Ile
ENST00000646123.1:c.2201C>T	ENSP00000494338.1:p.Thr734Ile
ENST00000646828.1:c.2177C>T	ENSP00000494842.1:p.Thr726Ile
ENST00000646918.1:c.2177C>T	ENSP00000495722.1:p.Thr726Ile
ENST00000647087.1:c.2177C>T	ENSP00000496406.1:p.Thr726Ile
ENST00000647224.1:c.2177C>T	ENSP00000496516.1:p.Thr726Ile
ENST00000281172.9:c.2177C>T	ENSP00000281172.5:p.Thr726Ile
ENST00000540613.5:c.1397C>T	ENSP00000441888.1:p.Thr466Ile
ENST00000542903.1:c.1397C>T	ENSP00000437806.1:p.Thr466Ile
ENST00000543468.5:c.*1437C>T	ENSP00000445985.1:n.*1437C>T
ENST00000543523.5:c.2177C>T	ENSP00000441867.1:p.Thr726Ile
ENST00000543612.5:c.2177C>T	ENSP00000442388.1:p.Thr726Ile
ENST00000545610.1:n.454C>T
NM_004447.5:c.2177C>T	NP_004438.3:p.Thr726Ile
XM_005253339.1:c.2210C>T	XP_005253396.1:p.Thr737Ile
XM_005253340.1:c.2177C>T	XP_005253397.1:p.Thr726Ile
XM_006719057.1:c.2177C>T	XP_006719120.1:p.Thr726Ile
XM_011520605.1:c.2237C>T	XP_011518907.1:p.Thr746Ile
XM_011520606.1:c.2177C>T	XP_011518908.1:p.Thr726Ile
XM_011520605.3:c.2237C>T	XP_011518907.1:p.Thr746Ile
XM_024448878.1:c.2210C>T	XP_024304646.1:p.Thr737Ile
XM_024448879.1:c.2177C>T	XP_024304647.1:p.Thr726Ile
XM_024448880.1:c.2177C>T	XP_024304648.1:p.Thr726Ile
XM_024448881.1:c.2177C>T	XP_024304649.1:p.Thr726Ile
XM_024448882.1:c.2177C>T	XP_024304650.1:p.Thr726Ile
NM_004447.6:c.2177C>T MANE Select	NP_004438.3:p.Thr726Ile