Canonical Allele Identifier: CA366084159

Gene: ESR1

Linked Data

• dbSNP Id: rs1289170624
• COSMIC: COSM3621514
• MyVariant Identifiers: chr6:g.152415538C>T (hg19) ; chr6:g.152094403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152094403C>T , CM000668.2:g.152094403C>T	GRCh38
NC_000006.11:g.152415538C>T , CM000668.1:g.152415538C>T	GRCh37
NC_000006.10:g.152457231C>T	NCBI36
NG_008493.1:g.408908C>T
NG_008493.2:g.442713C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206249.8:c.1388C>T MANE Select	ENSP00000206249.3:p.Ser463Phe
ENST00000638569.1:c.43-76C>T	ENSP00000491412.1:n.43-76C>T
ENST00000641399.1:n.716C>T
ENST00000206249.7:c.1388C>T	ENSP00000206249.3:p.Ser463Phe
ENST00000338799.9:c.1388C>T	ENSP00000342630.5:p.Ser463Phe
ENST00000406599.5:c.605C>T	ENSP00000384064.1:p.Ser202Phe
ENST00000427531.6:c.851-30863C>T	ENSP00000394721.2:n.851-30863C>T
ENST00000440973.5:c.1388C>T	ENSP00000405330.1:p.Ser463Phe
ENST00000443427.5:c.1388C>T	ENSP00000387500.1:p.Ser463Phe
ENST00000456483.3:c.*263C>T	ENSP00000415934.3:n.*263C>T
NM_000125.3:c.1388C>T	NP_000116.2:p.Ser463Phe
NM_001122740.1:c.1388C>T	NP_001116212.1:p.Ser463Phe
NM_001122741.1:c.1388C>T	NP_001116213.1:p.Ser463Phe
NM_001122742.1:c.1388C>T	NP_001116214.1:p.Ser463Phe
NM_001291230.1:c.1394C>T	NP_001278159.1:p.Ser465Phe
NM_001291241.1:c.1385C>T	NP_001278170.1:p.Ser462Phe
XM_006715374.2:c.1370-4329C>T	XP_006715437.1:n.1370-4329C>T
XM_006715375.2:c.869C>T	XP_006715438.1:p.Ser290Phe
XM_011535543.1:c.1388C>T	XP_011533845.1:p.Ser463Phe
XM_011535544.1:c.1388C>T	XP_011533846.1:p.Ser463Phe
XM_011535545.1:c.1388C>T	XP_011533847.1:p.Ser463Phe
XM_011535546.1:c.1388C>T	XP_011533848.1:p.Ser463Phe
XM_011535548.1:c.869C>T	XP_011533850.1:p.Ser290Phe
XM_011535549.1:c.659C>T	XP_011533851.1:p.Ser220Phe
NM_001328100.1:c.851-30863C>T	NP_001315029.1:n.851-30863C>T
XM_006715374.3:c.1370-4329C>T	XP_006715437.1:n.1370-4329C>T
XM_006715375.3:c.869C>T	XP_006715438.1:p.Ser290Phe
XM_011535543.2:c.1388C>T	XP_011533845.1:p.Ser463Phe
XM_011535544.2:c.1388C>T	XP_011533846.1:p.Ser463Phe
XM_011535545.2:c.1388C>T	XP_011533847.1:p.Ser463Phe
XM_011535549.2:c.659C>T	XP_011533851.1:p.Ser220Phe
XM_017010376.1:c.1388C>T	XP_016865865.1:p.Ser463Phe
XM_017010377.1:c.1388C>T	XP_016865866.1:p.Ser463Phe
XM_017010378.1:c.1388C>T	XP_016865867.1:p.Ser463Phe
XM_017010379.1:c.1388C>T	XP_016865868.1:p.Ser463Phe
XM_017010380.1:c.1388C>T	XP_016865869.1:p.Ser463Phe
XM_017010381.1:c.1388C>T	XP_016865870.1:p.Ser463Phe
XM_017010382.2:c.731C>T	XP_016865871.1:p.Ser244Phe
XM_017010383.1:c.599C>T	XP_016865872.1:p.Ser200Phe
XR_001743223.2:n.1601-4329C>T
XR_002956266.1:n.1619C>T
NM_000125.4:c.1388C>T MANE Select	NP_000116.2:p.Ser463Phe
NM_001328100.2:c.851-30863C>T	NP_001315029.1:n.851-30863C>T
NM_001122740.2:c.1388C>T	NP_001116212.1:p.Ser463Phe
NM_001122741.2:c.1388C>T	NP_001116213.1:p.Ser463Phe
NM_001122742.2:c.1388C>T	NP_001116214.1:p.Ser463Phe
NM_001291230.2:c.1394C>T	NP_001278159.1:p.Ser465Phe
NM_001291241.2:c.1385C>T	NP_001278170.1:p.Ser462Phe
NM_001385568.1:c.1388C>T	NP_001372497.1:p.Ser463Phe
NM_001385569.1:c.1388C>T	NP_001372498.1:p.Ser463Phe
NM_001385570.1:c.1370-4329C>T	NP_001372499.1:n.1370-4329C>T
NM_001385571.1:c.1370-4329C>T	NP_001372500.1:n.1370-4329C>T
NM_001385572.1:c.1370-4329C>T	NP_001372501.1:n.1370-4329C>T