Canonical Allele Identifier: CA452746229

Gene: ESR1

Linked Data

• dbSNP Id: rs2152496378
• MyVariant Identifiers: chr6:g.152415635G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152094500G>A , CM000668.2:g.152094500G>A	GRCh38
NC_000006.11:g.152415635G>A , CM000668.1:g.152415635G>A	GRCh37
NC_000006.10:g.152457328G>A	NCBI36
NG_008493.1:g.409005G>A
NG_008493.2:g.442810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206249.8:c.1485G>A MANE Select	ENSP00000206249.3:p.Leu495=
ENST00000638569.1:c.64G>A	ENSP00000491412.1:p.Asp22Asn
ENST00000641399.1:n.813G>A
ENST00000206249.7:c.1485G>A	ENSP00000206249.3:p.Leu495=
ENST00000338799.9:c.1485G>A	ENSP00000342630.5:p.Leu495=
ENST00000406599.5:c.702G>A	ENSP00000384064.1:p.Leu234=
ENST00000427531.6:c.851-30766G>A	ENSP00000394721.2:n.851-30766G>A
ENST00000440973.5:c.1485G>A	ENSP00000405330.1:p.Leu495=
ENST00000443427.5:c.1485G>A	ENSP00000387500.1:p.Leu495=
ENST00000456483.3:c.*360G>A	ENSP00000415934.3:n.*360G>A
NM_000125.3:c.1485G>A	NP_000116.2:p.Leu495=
NM_001122740.1:c.1485G>A	NP_001116212.1:p.Leu495=
NM_001122741.1:c.1485G>A	NP_001116213.1:p.Leu495=
NM_001122742.1:c.1485G>A	NP_001116214.1:p.Leu495=
NM_001291230.1:c.1491G>A	NP_001278159.1:p.Leu497=
NM_001291241.1:c.1482G>A	NP_001278170.1:p.Leu494=
XM_006715374.2:c.1370-4232G>A	XP_006715437.1:n.1370-4232G>A
XM_006715375.2:c.966G>A	XP_006715438.1:p.Leu322=
XM_011535543.1:c.1485G>A	XP_011533845.1:p.Leu495=
XM_011535544.1:c.1485G>A	XP_011533846.1:p.Leu495=
XM_011535545.1:c.1485G>A	XP_011533847.1:p.Leu495=
XM_011535546.1:c.1485G>A	XP_011533848.1:p.Leu495=
XM_011535548.1:c.966G>A	XP_011533850.1:p.Leu322=
XM_011535549.1:c.756G>A	XP_011533851.1:p.Leu252=
NM_001328100.1:c.851-30766G>A	NP_001315029.1:n.851-30766G>A
XM_006715374.3:c.1370-4232G>A	XP_006715437.1:n.1370-4232G>A
XM_006715375.3:c.966G>A	XP_006715438.1:p.Leu322=
XM_011535543.2:c.1485G>A	XP_011533845.1:p.Leu495=
XM_011535544.2:c.1485G>A	XP_011533846.1:p.Leu495=
XM_011535545.2:c.1485G>A	XP_011533847.1:p.Leu495=
XM_011535549.2:c.756G>A	XP_011533851.1:p.Leu252=
XM_017010376.1:c.1485G>A	XP_016865865.1:p.Leu495=
XM_017010377.1:c.1485G>A	XP_016865866.1:p.Leu495=
XM_017010378.1:c.1485G>A	XP_016865867.1:p.Leu495=
XM_017010379.1:c.1485G>A	XP_016865868.1:p.Leu495=
XM_017010380.1:c.1485G>A	XP_016865869.1:p.Leu495=
XM_017010381.1:c.1485G>A	XP_016865870.1:p.Leu495=
XM_017010382.2:c.828G>A	XP_016865871.1:p.Leu276=
XM_017010383.1:c.696G>A	XP_016865872.1:p.Leu232=
XR_001743223.2:n.1601-4232G>A
XR_002956266.1:n.1716G>A
NM_000125.4:c.1485G>A MANE Select	NP_000116.2:p.Leu495=
NM_001328100.2:c.851-30766G>A	NP_001315029.1:n.851-30766G>A
NM_001122740.2:c.1485G>A	NP_001116212.1:p.Leu495=
NM_001122741.2:c.1485G>A	NP_001116213.1:p.Leu495=
NM_001122742.2:c.1485G>A	NP_001116214.1:p.Leu495=
NM_001291230.2:c.1491G>A	NP_001278159.1:p.Leu497=
NM_001291241.2:c.1482G>A	NP_001278170.1:p.Leu494=
NM_001385568.1:c.1485G>A	NP_001372497.1:p.Leu495=
NM_001385569.1:c.1485G>A	NP_001372498.1:p.Leu495=
NM_001385570.1:c.1370-4232G>A	NP_001372499.1:n.1370-4232G>A
NM_001385571.1:c.1370-4232G>A	NP_001372500.1:n.1370-4232G>A
NM_001385572.1:c.1370-4232G>A	NP_001372501.1:n.1370-4232G>A