Canonical Allele Identifier: CA366213759

Gene: ESR1

Linked Data

• dbSNP Id: rs1232973770
• gnomAD v2: 6-152382147-G-C
• gnomAD v4: 6-152061012-G-C
• MyVariant Identifiers: chr6:g.152382147G>C (hg19) ; chr6:g.152061012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152061012G>C , CM000668.2:g.152061012G>C	GRCh38
NC_000006.11:g.152382147G>C , CM000668.1:g.152382147G>C	GRCh37
NC_000006.10:g.152423840G>C	NCBI36
NG_008493.1:g.375517G>C
NG_008493.2:g.409322G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206249.8:c.1257G>C MANE Select	ENSP00000206249.3:p.Glu419Asp
ENST00000638569.1:c.43-33467G>C	ENSP00000491412.1:n.43-33467G>C
ENST00000641399.1:n.585G>C
ENST00000206249.7:c.1257G>C	ENSP00000206249.3:p.Glu419Asp
ENST00000338799.9:c.1257G>C	ENSP00000342630.5:p.Glu419Asp
ENST00000406599.5:c.474G>C	ENSP00000384064.1:p.Glu158Asp
ENST00000415488.1:c.276G>C	ENSP00000401995.1:p.Glu92Asp
ENST00000427531.6:c.738G>C	ENSP00000394721.2:p.Glu246Asp
ENST00000440973.5:c.1257G>C	ENSP00000405330.1:p.Glu419Asp
ENST00000443427.5:c.1257G>C	ENSP00000387500.1:p.Glu419Asp
ENST00000456483.3:c.*132G>C	ENSP00000415934.3:n.*132G>C
NM_000125.3:c.1257G>C	NP_000116.2:p.Glu419Asp
NM_001122740.1:c.1257G>C	NP_001116212.1:p.Glu419Asp
NM_001122741.1:c.1257G>C	NP_001116213.1:p.Glu419Asp
NM_001122742.1:c.1257G>C	NP_001116214.1:p.Glu419Asp
NM_001291230.1:c.1263G>C	NP_001278159.1:p.Glu421Asp
NM_001291241.1:c.1254G>C	NP_001278170.1:p.Glu418Asp
XM_006715374.2:c.1257G>C	XP_006715437.1:p.Glu419Asp
XM_006715375.2:c.738G>C	XP_006715438.1:p.Glu246Asp
XM_011535543.1:c.1257G>C	XP_011533845.1:p.Glu419Asp
XM_011535544.1:c.1257G>C	XP_011533846.1:p.Glu419Asp
XM_011535545.1:c.1257G>C	XP_011533847.1:p.Glu419Asp
XM_011535546.1:c.1257G>C	XP_011533848.1:p.Glu419Asp
XM_011535547.1:c.1257G>C	XP_011533849.1:p.Glu419Asp
XM_011535548.1:c.738G>C	XP_011533850.1:p.Glu246Asp
XM_011535549.1:c.528G>C	XP_011533851.1:p.Glu176Asp
NM_001328100.1:c.738G>C	NP_001315029.1:p.Glu246Asp
XM_006715374.3:c.1257G>C	XP_006715437.1:p.Glu419Asp
XM_006715375.3:c.738G>C	XP_006715438.1:p.Glu246Asp
XM_011535543.2:c.1257G>C	XP_011533845.1:p.Glu419Asp
XM_011535544.2:c.1257G>C	XP_011533846.1:p.Glu419Asp
XM_011535545.2:c.1257G>C	XP_011533847.1:p.Glu419Asp
XM_011535547.2:c.1257G>C	XP_011533849.1:p.Glu419Asp
XM_011535549.2:c.528G>C	XP_011533851.1:p.Glu176Asp
XM_017010376.1:c.1257G>C	XP_016865865.1:p.Glu419Asp
XM_017010377.1:c.1257G>C	XP_016865866.1:p.Glu419Asp
XM_017010378.1:c.1257G>C	XP_016865867.1:p.Glu419Asp
XM_017010379.1:c.1257G>C	XP_016865868.1:p.Glu419Asp
XM_017010380.1:c.1257G>C	XP_016865869.1:p.Glu419Asp
XM_017010381.1:c.1257G>C	XP_016865870.1:p.Glu419Asp
XM_017010382.2:c.600G>C	XP_016865871.1:p.Glu200Asp
XM_017010383.1:c.468G>C	XP_016865872.1:p.Glu156Asp
XR_001743223.2:n.1488G>C
XR_002956266.1:n.1488G>C
NM_000125.4:c.1257G>C MANE Select	NP_000116.2:p.Glu419Asp
NM_001328100.2:c.738G>C	NP_001315029.1:p.Glu246Asp
NM_001122740.2:c.1257G>C	NP_001116212.1:p.Glu419Asp
NM_001122741.2:c.1257G>C	NP_001116213.1:p.Glu419Asp
NM_001122742.2:c.1257G>C	NP_001116214.1:p.Glu419Asp
NM_001291230.2:c.1263G>C	NP_001278159.1:p.Glu421Asp
NM_001291241.2:c.1254G>C	NP_001278170.1:p.Glu418Asp
NM_001385568.1:c.1257G>C	NP_001372497.1:p.Glu419Asp
NM_001385569.1:c.1257G>C	NP_001372498.1:p.Glu419Asp
NM_001385570.1:c.1257G>C	NP_001372499.1:p.Glu419Asp
NM_001385571.1:c.1257G>C	NP_001372500.1:p.Glu419Asp
NM_001385572.1:c.1257G>C	NP_001372501.1:p.Glu419Asp