Canonical Allele Identifier: CA2838171761

Gene: ESR1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152101052G>C , CM000668.2:g.152101052G>C	GRCh38
NC_000006.11:g.152422187G>C , CM000668.1:g.152422187G>C	GRCh37
NC_000006.10:g.152463880G>C	NCBI36
NG_008493.1:g.415557G>C
NG_008493.2:g.449362G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206249.8:c.*2086G>C MANE Select	ENSP00000206249.3:n.*2086G>C
ENST00000641399.1:n.1070+2132G>C
ENST00000206249.7:c.*2086G>C	ENSP00000206249.3:n.*2086G>C
ENST00000427531.6:c.851-24214G>C	ENSP00000394721.2:n.851-24214G>C
ENST00000440973.5:c.*2086G>C	ENSP00000405330.1:n.*2086G>C
ENST00000443427.5:c.*2086G>C	ENSP00000387500.1:n.*2086G>C
NM_000125.3:c.*2086G>C	NP_000116.2:n.*2086G>C
NM_001122740.1:c.*2086G>C	NP_001116212.1:n.*2086G>C
NM_001122741.1:c.*2086G>C	NP_001116213.1:n.*2086G>C
NM_001122742.1:c.*2086G>C	NP_001116214.1:n.*2086G>C
NM_001291230.1:c.*2086G>C	NP_001278159.1:n.*2086G>C
NM_001291241.1:c.*2086G>C	NP_001278170.1:n.*2086G>C
XM_006715374.2:c.*2289G>C	XP_006715437.1:n.*2289G>C
XM_006715375.2:c.*2086G>C	XP_006715438.1:n.*2086G>C
XM_011535543.1:c.*2086G>C	XP_011533845.1:n.*2086G>C
XM_011535544.1:c.*2086G>C	XP_011533846.1:n.*2086G>C
XM_011535545.1:c.*2086G>C	XP_011533847.1:n.*2086G>C
XM_011535546.1:c.*2086G>C	XP_011533848.1:n.*2086G>C
XM_011535548.1:c.*2086G>C	XP_011533850.1:n.*2086G>C
XM_011535549.1:c.*2086G>C	XP_011533851.1:n.*2086G>C
NM_001328100.1:c.851-24214G>C	NP_001315029.1:n.851-24214G>C
XM_006715374.3:c.*2289G>C	XP_006715437.1:n.*2289G>C
NM_000125.4:c.*2086G>C MANE Select	NP_000116.2:n.*2086G>C
NM_001328100.2:c.851-24214G>C	NP_001315029.1:n.851-24214G>C
NM_001122740.2:c.*2086G>C	NP_001116212.1:n.*2086G>C
NM_001122741.2:c.*2086G>C	NP_001116213.1:n.*2086G>C
NM_001122742.2:c.*2086G>C	NP_001116214.1:n.*2086G>C
NM_001291230.2:c.*2086G>C	NP_001278159.1:n.*2086G>C
NM_001291241.2:c.*2086G>C	NP_001278170.1:n.*2086G>C
NM_001385568.1:c.*2086G>C	NP_001372497.1:n.*2086G>C
NM_001385569.1:c.*2086G>C	NP_001372498.1:n.*2086G>C
NM_001385570.1:c.*2289G>C	NP_001372499.1:n.*2289G>C
NM_001385571.1:c.*2289G>C	NP_001372500.1:n.*2289G>C
NM_001385572.1:c.*2289G>C	NP_001372501.1:n.*2289G>C