Canonical Allele Identifier: CA4052497

Gene: ESR1

Linked Data

• dbSNP Id: rs747966044
• ExAC: 6:152419912 G / T
• gnomAD v2: 6-152419912-G-T
• gnomAD v4: 6-152098777-G-T
• MyVariant Identifiers: chr6:g.152419912G>T (hg19) ; chr6:g.152098777G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152098777G>T , CM000668.2:g.152098777G>T	GRCh38
NC_000006.11:g.152419912G>T , CM000668.1:g.152419912G>T	GRCh37
NC_000006.10:g.152461605G>T	NCBI36
NG_008493.1:g.413282G>T
NG_008493.2:g.447087G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000206249.8:c.1599G>T MANE Select	ENSP00000206249.3:p.Val533=
ENST00000641399.1:n.927G>T
ENST00000206249.7:c.1599G>T	ENSP00000206249.3:p.Val533=
ENST00000338799.9:c.1599G>T	ENSP00000342630.5:p.Val533=
ENST00000406599.5:c.816G>T	ENSP00000384064.1:p.Val272=
ENST00000427531.6:c.851-26489G>T	ENSP00000394721.2:n.851-26489G>T
ENST00000440973.5:c.1599G>T	ENSP00000405330.1:p.Val533=
ENST00000443427.5:c.1599G>T	ENSP00000387500.1:p.Val533=
ENST00000456483.3:c.*474G>T	ENSP00000415934.3:n.*474G>T
NM_000125.3:c.1599G>T	NP_000116.2:p.Val533=
NM_001122740.1:c.1599G>T	NP_001116212.1:p.Val533=
NM_001122741.1:c.1599G>T	NP_001116213.1:p.Val533=
NM_001122742.1:c.1599G>T	NP_001116214.1:p.Val533=
NM_001291230.1:c.1605G>T	NP_001278159.1:p.Val535=
NM_001291241.1:c.1596G>T	NP_001278170.1:p.Val532=
XM_006715374.2:c.*14G>T	XP_006715437.1:n.*14G>T
XM_006715375.2:c.1080G>T	XP_006715438.1:p.Val360=
XM_011535543.1:c.1599G>T	XP_011533845.1:p.Val533=
XM_011535544.1:c.1599G>T	XP_011533846.1:p.Val533=
XM_011535545.1:c.1599G>T	XP_011533847.1:p.Val533=
XM_011535546.1:c.1599G>T	XP_011533848.1:p.Val533=
XM_011535548.1:c.1080G>T	XP_011533850.1:p.Val360=
XM_011535549.1:c.870G>T	XP_011533851.1:p.Val290=
NM_001328100.1:c.851-26489G>T	NP_001315029.1:n.851-26489G>T
XM_006715374.3:c.*14G>T	XP_006715437.1:n.*14G>T
XM_006715375.3:c.1080G>T	XP_006715438.1:p.Val360=
XM_011535543.2:c.1599G>T	XP_011533845.1:p.Val533=
XM_011535544.2:c.1599G>T	XP_011533846.1:p.Val533=
XM_011535545.2:c.1599G>T	XP_011533847.1:p.Val533=
XM_011535549.2:c.870G>T	XP_011533851.1:p.Val290=
XM_017010376.1:c.1599G>T	XP_016865865.1:p.Val533=
XM_017010377.1:c.1599G>T	XP_016865866.1:p.Val533=
XM_017010378.1:c.1599G>T	XP_016865867.1:p.Val533=
XM_017010379.1:c.1599G>T	XP_016865868.1:p.Val533=
XM_017010380.1:c.1599G>T	XP_016865869.1:p.Val533=
XM_017010381.1:c.1599G>T	XP_016865870.1:p.Val533=
XM_017010382.2:c.942G>T	XP_016865871.1:p.Val314=
XM_017010383.1:c.810G>T	XP_016865872.1:p.Val270=
XR_001743223.2:n.1646G>T
NM_000125.4:c.1599G>T MANE Select	NP_000116.2:p.Val533=
NM_001328100.2:c.851-26489G>T	NP_001315029.1:n.851-26489G>T
NM_001122740.2:c.1599G>T	NP_001116212.1:p.Val533=
NM_001122741.2:c.1599G>T	NP_001116213.1:p.Val533=
NM_001122742.2:c.1599G>T	NP_001116214.1:p.Val533=
NM_001291230.2:c.1605G>T	NP_001278159.1:p.Val535=
NM_001291241.2:c.1596G>T	NP_001278170.1:p.Val532=
NM_001385568.1:c.1599G>T	NP_001372497.1:p.Val533=
NM_001385569.1:c.1599G>T	NP_001372498.1:p.Val533=
NM_001385570.1:c.*14G>T	NP_001372499.1:n.*14G>T
NM_001385571.1:c.*14G>T	NP_001372500.1:n.*14G>T
NM_001385572.1:c.*14G>T	NP_001372501.1:n.*14G>T