Canonical Allele Identifier: CA4052496

Gene: ESR1

Linked Data

• dbSNP Id: rs778116774
• ExAC: 6:152419910 G / A
• gnomAD v2: 6-152419910-G-A
• gnomAD v3: 6-152098775-G-A
• gnomAD v4: 6-152098775-G-A
• COSMIC: COSM239746
• MyVariant Identifiers: chr6:g.152419910G>A (hg19) ; chr6:g.152098775G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152098775G>A , CM000668.2:g.152098775G>A	GRCh38
NC_000006.11:g.152419910G>A , CM000668.1:g.152419910G>A	GRCh37
NC_000006.10:g.152461603G>A	NCBI36
NG_008493.1:g.413280G>A
NG_008493.2:g.447085G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000206249.8:c.1597G>A MANE Select	ENSP00000206249.3:p.Val533Met
ENST00000641399.1:n.925G>A
ENST00000206249.7:c.1597G>A	ENSP00000206249.3:p.Val533Met
ENST00000338799.9:c.1597G>A	ENSP00000342630.5:p.Val533Met
ENST00000406599.5:c.814G>A	ENSP00000384064.1:p.Val272Met
ENST00000427531.6:c.851-26491G>A	ENSP00000394721.2:n.851-26491G>A
ENST00000440973.5:c.1597G>A	ENSP00000405330.1:p.Val533Met
ENST00000443427.5:c.1597G>A	ENSP00000387500.1:p.Val533Met
ENST00000456483.3:c.*472G>A	ENSP00000415934.3:n.*472G>A
NM_000125.3:c.1597G>A	NP_000116.2:p.Val533Met
NM_001122740.1:c.1597G>A	NP_001116212.1:p.Val533Met
NM_001122741.1:c.1597G>A	NP_001116213.1:p.Val533Met
NM_001122742.1:c.1597G>A	NP_001116214.1:p.Val533Met
NM_001291230.1:c.1603G>A	NP_001278159.1:p.Val535Met
NM_001291241.1:c.1594G>A	NP_001278170.1:p.Val532Met
XM_006715374.2:c.*12G>A	XP_006715437.1:n.*12G>A
XM_006715375.2:c.1078G>A	XP_006715438.1:p.Val360Met
XM_011535543.1:c.1597G>A	XP_011533845.1:p.Val533Met
XM_011535544.1:c.1597G>A	XP_011533846.1:p.Val533Met
XM_011535545.1:c.1597G>A	XP_011533847.1:p.Val533Met
XM_011535546.1:c.1597G>A	XP_011533848.1:p.Val533Met
XM_011535548.1:c.1078G>A	XP_011533850.1:p.Val360Met
XM_011535549.1:c.868G>A	XP_011533851.1:p.Val290Met
NM_001328100.1:c.851-26491G>A	NP_001315029.1:n.851-26491G>A
XM_006715374.3:c.*12G>A	XP_006715437.1:n.*12G>A
XM_006715375.3:c.1078G>A	XP_006715438.1:p.Val360Met
XM_011535543.2:c.1597G>A	XP_011533845.1:p.Val533Met
XM_011535544.2:c.1597G>A	XP_011533846.1:p.Val533Met
XM_011535545.2:c.1597G>A	XP_011533847.1:p.Val533Met
XM_011535549.2:c.868G>A	XP_011533851.1:p.Val290Met
XM_017010376.1:c.1597G>A	XP_016865865.1:p.Val533Met
XM_017010377.1:c.1597G>A	XP_016865866.1:p.Val533Met
XM_017010378.1:c.1597G>A	XP_016865867.1:p.Val533Met
XM_017010379.1:c.1597G>A	XP_016865868.1:p.Val533Met
XM_017010380.1:c.1597G>A	XP_016865869.1:p.Val533Met
XM_017010381.1:c.1597G>A	XP_016865870.1:p.Val533Met
XM_017010382.2:c.940G>A	XP_016865871.1:p.Val314Met
XM_017010383.1:c.808G>A	XP_016865872.1:p.Val270Met
XR_001743223.2:n.1644G>A
NM_000125.4:c.1597G>A MANE Select	NP_000116.2:p.Val533Met
NM_001328100.2:c.851-26491G>A	NP_001315029.1:n.851-26491G>A
NM_001122740.2:c.1597G>A	NP_001116212.1:p.Val533Met
NM_001122741.2:c.1597G>A	NP_001116213.1:p.Val533Met
NM_001122742.2:c.1597G>A	NP_001116214.1:p.Val533Met
NM_001291230.2:c.1603G>A	NP_001278159.1:p.Val535Met
NM_001291241.2:c.1594G>A	NP_001278170.1:p.Val532Met
NM_001385568.1:c.1597G>A	NP_001372497.1:p.Val533Met
NM_001385569.1:c.1597G>A	NP_001372498.1:p.Val533Met
NM_001385570.1:c.*12G>A	NP_001372499.1:n.*12G>A
NM_001385571.1:c.*12G>A	NP_001372500.1:n.*12G>A
NM_001385572.1:c.*12G>A	NP_001372501.1:n.*12G>A