Canonical Allele Identifier: CA452746623
Gene: ESR1 HGNC NCBI

Linked Data

dbSNP Id: rs2152507015
MyVariant Identifiers: chr6:g.152420015T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152098880T>C , CM000668.2:g.152098880T>C GRCh38
NC_000006.11:g.152420015T>C , CM000668.1:g.152420015T>C GRCh37
NC_000006.10:g.152461708T>C NCBI36
NG_008493.1:g.413385T>C
NG_008493.2:g.447190T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206249.8:c.1702T>C MANE Select ENSP00000206249.3:p.Leu568=
ENST00000641399.1:n.1030T>C
ENST00000206249.7:c.1702T>C ENSP00000206249.3:p.Leu568=
ENST00000338799.9:c.1702T>C ENSP00000342630.5:p.Leu568=
ENST00000406599.5:c.919T>C ENSP00000384064.1:p.Leu307=
ENST00000427531.6:c.851-26386T>C ENSP00000394721.2:n.851-26386T>C
ENST00000440973.5:c.1702T>C ENSP00000405330.1:p.Leu568=
ENST00000443427.5:c.1702T>C ENSP00000387500.1:p.Leu568=
ENST00000456483.3:c.*577T>C ENSP00000415934.3:n.*577T>C
NM_000125.3:c.1702T>C NP_000116.2:p.Leu568=
NM_001122740.1:c.1702T>C NP_001116212.1:p.Leu568=
NM_001122741.1:c.1702T>C NP_001116213.1:p.Leu568=
NM_001122742.1:c.1702T>C NP_001116214.1:p.Leu568=
NM_001291230.1:c.1708T>C NP_001278159.1:p.Leu570=
NM_001291241.1:c.1699T>C NP_001278170.1:p.Leu567=
XM_006715374.2:c.*117T>C XP_006715437.1:n.*117T>C
XM_006715375.2:c.1183T>C XP_006715438.1:p.Leu395=
XM_011535543.1:c.1702T>C XP_011533845.1:p.Leu568=
XM_011535544.1:c.1702T>C XP_011533846.1:p.Leu568=
XM_011535545.1:c.1702T>C XP_011533847.1:p.Leu568=
XM_011535546.1:c.1702T>C XP_011533848.1:p.Leu568=
XM_011535548.1:c.1183T>C XP_011533850.1:p.Leu395=
XM_011535549.1:c.973T>C XP_011533851.1:p.Leu325=
NM_001328100.1:c.851-26386T>C NP_001315029.1:n.851-26386T>C
XM_006715374.3:c.*117T>C XP_006715437.1:n.*117T>C
XM_006715375.3:c.1183T>C XP_006715438.1:p.Leu395=
XM_011535543.2:c.1702T>C XP_011533845.1:p.Leu568=
XM_011535544.2:c.1702T>C XP_011533846.1:p.Leu568=
XM_011535545.2:c.1702T>C XP_011533847.1:p.Leu568=
XM_011535549.2:c.973T>C XP_011533851.1:p.Leu325=
XM_017010376.1:c.1702T>C XP_016865865.1:p.Leu568=
XM_017010377.1:c.1702T>C XP_016865866.1:p.Leu568=
XM_017010378.1:c.1702T>C XP_016865867.1:p.Leu568=
XM_017010379.1:c.1702T>C XP_016865868.1:p.Leu568=
XM_017010380.1:c.1702T>C XP_016865869.1:p.Leu568=
XM_017010381.1:c.1702T>C XP_016865870.1:p.Leu568=
XM_017010382.2:c.1045T>C XP_016865871.1:p.Leu349=
XM_017010383.1:c.913T>C XP_016865872.1:p.Leu305=
XR_001743223.2:n.1749T>C
NM_000125.4:c.1702T>C MANE Select NP_000116.2:p.Leu568=
NM_001328100.2:c.851-26386T>C NP_001315029.1:n.851-26386T>C
NM_001122740.2:c.1702T>C NP_001116212.1:p.Leu568=
NM_001122741.2:c.1702T>C NP_001116213.1:p.Leu568=
NM_001122742.2:c.1702T>C NP_001116214.1:p.Leu568=
NM_001291230.2:c.1708T>C NP_001278159.1:p.Leu570=
NM_001291241.2:c.1699T>C NP_001278170.1:p.Leu567=
NM_001385568.1:c.1702T>C NP_001372497.1:p.Leu568=
NM_001385569.1:c.1702T>C NP_001372498.1:p.Leu568=
NM_001385570.1:c.*117T>C NP_001372499.1:n.*117T>C
NM_001385571.1:c.*117T>C NP_001372500.1:n.*117T>C
NM_001385572.1:c.*117T>C NP_001372501.1:n.*117T>C