Canonical Allele Identifier: CA452893398

Gene: ESR1

Linked Data

• dbSNP Id: rs2128958616
• gnomAD v4: 6-152061117-T-C
• MyVariant Identifiers: chr6:g.152382252T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152061117T>C , CM000668.2:g.152061117T>C	GRCh38
NC_000006.11:g.152382252T>C , CM000668.1:g.152382252T>C	GRCh37
NC_000006.10:g.152423945T>C	NCBI36
NG_008493.1:g.375622T>C
NG_008493.2:g.409427T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206249.8:c.1362T>C MANE Select	ENSP00000206249.3:p.Leu454=
ENST00000638569.1:c.43-33362T>C	ENSP00000491412.1:n.43-33362T>C
ENST00000641399.1:n.690T>C
ENST00000206249.7:c.1362T>C	ENSP00000206249.3:p.Leu454=
ENST00000338799.9:c.1362T>C	ENSP00000342630.5:p.Leu454=
ENST00000406599.5:c.579T>C	ENSP00000384064.1:p.Leu193=
ENST00000427531.6:c.843T>C	ENSP00000394721.2:p.Leu281=
ENST00000440973.5:c.1362T>C	ENSP00000405330.1:p.Leu454=
ENST00000443427.5:c.1362T>C	ENSP00000387500.1:p.Leu454=
ENST00000456483.3:c.*237T>C	ENSP00000415934.3:n.*237T>C
NM_000125.3:c.1362T>C	NP_000116.2:p.Leu454=
NM_001122740.1:c.1362T>C	NP_001116212.1:p.Leu454=
NM_001122741.1:c.1362T>C	NP_001116213.1:p.Leu454=
NM_001122742.1:c.1362T>C	NP_001116214.1:p.Leu454=
NM_001291230.1:c.1368T>C	NP_001278159.1:p.Leu456=
NM_001291241.1:c.1359T>C	NP_001278170.1:p.Leu453=
XM_006715374.2:c.1362T>C	XP_006715437.1:p.Leu454=
XM_006715375.2:c.843T>C	XP_006715438.1:p.Leu281=
XM_011535543.1:c.1362T>C	XP_011533845.1:p.Leu454=
XM_011535544.1:c.1362T>C	XP_011533846.1:p.Leu454=
XM_011535545.1:c.1362T>C	XP_011533847.1:p.Leu454=
XM_011535546.1:c.1362T>C	XP_011533848.1:p.Leu454=
XM_011535547.1:c.1362T>C	XP_011533849.1:p.Leu454=
XM_011535548.1:c.843T>C	XP_011533850.1:p.Leu281=
XM_011535549.1:c.633T>C	XP_011533851.1:p.Leu211=
NM_001328100.1:c.843T>C	NP_001315029.1:p.Leu281=
XM_006715374.3:c.1362T>C	XP_006715437.1:p.Leu454=
XM_006715375.3:c.843T>C	XP_006715438.1:p.Leu281=
XM_011535543.2:c.1362T>C	XP_011533845.1:p.Leu454=
XM_011535544.2:c.1362T>C	XP_011533846.1:p.Leu454=
XM_011535545.2:c.1362T>C	XP_011533847.1:p.Leu454=
XM_011535547.2:c.1362T>C	XP_011533849.1:p.Leu454=
XM_011535549.2:c.633T>C	XP_011533851.1:p.Leu211=
XM_017010376.1:c.1362T>C	XP_016865865.1:p.Leu454=
XM_017010377.1:c.1362T>C	XP_016865866.1:p.Leu454=
XM_017010378.1:c.1362T>C	XP_016865867.1:p.Leu454=
XM_017010379.1:c.1362T>C	XP_016865868.1:p.Leu454=
XM_017010380.1:c.1362T>C	XP_016865869.1:p.Leu454=
XM_017010381.1:c.1362T>C	XP_016865870.1:p.Leu454=
XM_017010382.2:c.705T>C	XP_016865871.1:p.Leu235=
XM_017010383.1:c.573T>C	XP_016865872.1:p.Leu191=
XR_001743223.2:n.1593T>C
XR_002956266.1:n.1593T>C
NM_000125.4:c.1362T>C MANE Select	NP_000116.2:p.Leu454=
NM_001328100.2:c.843T>C	NP_001315029.1:p.Leu281=
NM_001122740.2:c.1362T>C	NP_001116212.1:p.Leu454=
NM_001122741.2:c.1362T>C	NP_001116213.1:p.Leu454=
NM_001122742.2:c.1362T>C	NP_001116214.1:p.Leu454=
NM_001291230.2:c.1368T>C	NP_001278159.1:p.Leu456=
NM_001291241.2:c.1359T>C	NP_001278170.1:p.Leu453=
NM_001385568.1:c.1362T>C	NP_001372497.1:p.Leu454=
NM_001385569.1:c.1362T>C	NP_001372498.1:p.Leu454=
NM_001385570.1:c.1362T>C	NP_001372499.1:p.Leu454=
NM_001385571.1:c.1362T>C	NP_001372500.1:p.Leu454=
NM_001385572.1:c.1362T>C	NP_001372501.1:p.Leu454=