Canonical Allele Identifier: CA366213576

Gene: ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152265593T>C (hg19) ; chr6:g.151944458T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151944458T>C , CM000668.2:g.151944458T>C	GRCh38
NC_000006.11:g.152265593T>C , CM000668.1:g.152265593T>C	GRCh37
NC_000006.10:g.152307286T>C	NCBI36
NG_008493.1:g.258963T>C
NG_008493.2:g.292768T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206249.8:c.1046T>C MANE Select	ENSP00000206249.3:p.Leu349Pro
ENST00000638569.1:c.42+209T>C	ENSP00000491412.1:n.42+209T>C
ENST00000641399.1:n.374T>C
ENST00000206249.7:c.1046T>C	ENSP00000206249.3:p.Leu349Pro
ENST00000338799.9:c.1046T>C	ENSP00000342630.5:p.Leu349Pro
ENST00000406599.5:c.453-116533T>C	ENSP00000384064.1:n.453-116533T>C
ENST00000415488.1:c.115+63687T>C	ENSP00000401995.1:n.115+63687T>C
ENST00000427531.6:c.527T>C	ENSP00000394721.2:p.Leu176Pro
ENST00000440973.5:c.1046T>C	ENSP00000405330.1:p.Leu349Pro
ENST00000443427.5:c.1046T>C	ENSP00000387500.1:p.Leu349Pro
ENST00000456483.3:c.*110+63687T>C	ENSP00000415934.3:n.*110+63687T>C
ENST00000482101.1:n.287T>C
NM_000125.3:c.1046T>C	NP_000116.2:p.Leu349Pro
NM_001122740.1:c.1046T>C	NP_001116212.1:p.Leu349Pro
NM_001122741.1:c.1046T>C	NP_001116213.1:p.Leu349Pro
NM_001122742.1:c.1046T>C	NP_001116214.1:p.Leu349Pro
NM_001291230.1:c.1052T>C	NP_001278159.1:p.Leu351Pro
NM_001291241.1:c.1043T>C	NP_001278170.1:p.Leu348Pro
XM_006715374.2:c.1046T>C	XP_006715437.1:p.Leu349Pro
XM_006715375.2:c.527T>C	XP_006715438.1:p.Leu176Pro
XM_011535543.1:c.1046T>C	XP_011533845.1:p.Leu349Pro
XM_011535544.1:c.1046T>C	XP_011533846.1:p.Leu349Pro
XM_011535545.1:c.1046T>C	XP_011533847.1:p.Leu349Pro
XM_011535546.1:c.1046T>C	XP_011533848.1:p.Leu349Pro
XM_011535547.1:c.1046T>C	XP_011533849.1:p.Leu349Pro
XM_011535548.1:c.527T>C	XP_011533850.1:p.Leu176Pro
XM_011535549.1:c.317T>C	XP_011533851.1:p.Leu106Pro
NM_001328100.1:c.527T>C	NP_001315029.1:p.Leu176Pro
XM_006715374.3:c.1046T>C	XP_006715437.1:p.Leu349Pro
XM_006715375.3:c.527T>C	XP_006715438.1:p.Leu176Pro
XM_011535543.2:c.1046T>C	XP_011533845.1:p.Leu349Pro
XM_011535544.2:c.1046T>C	XP_011533846.1:p.Leu349Pro
XM_011535545.2:c.1046T>C	XP_011533847.1:p.Leu349Pro
XM_011535547.2:c.1046T>C	XP_011533849.1:p.Leu349Pro
XM_011535549.2:c.317T>C	XP_011533851.1:p.Leu106Pro
XM_017010376.1:c.1046T>C	XP_016865865.1:p.Leu349Pro
XM_017010377.1:c.1046T>C	XP_016865866.1:p.Leu349Pro
XM_017010378.1:c.1046T>C	XP_016865867.1:p.Leu349Pro
XM_017010379.1:c.1046T>C	XP_016865868.1:p.Leu349Pro
XM_017010380.1:c.1046T>C	XP_016865869.1:p.Leu349Pro
XM_017010381.1:c.1046T>C	XP_016865870.1:p.Leu349Pro
XM_017010382.2:c.389T>C	XP_016865871.1:p.Leu130Pro
XM_017010383.1:c.257T>C	XP_016865872.1:p.Leu86Pro
XR_001743223.2:n.1416T>C
XR_002956266.1:n.1416T>C
NM_000125.4:c.1046T>C MANE Select	NP_000116.2:p.Leu349Pro
NM_001328100.2:c.527T>C	NP_001315029.1:p.Leu176Pro
NM_001122740.2:c.1046T>C	NP_001116212.1:p.Leu349Pro
NM_001122741.2:c.1046T>C	NP_001116213.1:p.Leu349Pro
NM_001122742.2:c.1046T>C	NP_001116214.1:p.Leu349Pro
NM_001291230.2:c.1052T>C	NP_001278159.1:p.Leu351Pro
NM_001291241.2:c.1043T>C	NP_001278170.1:p.Leu348Pro
NM_001385568.1:c.1046T>C	NP_001372497.1:p.Leu349Pro
NM_001385569.1:c.1046T>C	NP_001372498.1:p.Leu349Pro
NM_001385570.1:c.1046T>C	NP_001372499.1:p.Leu349Pro
NM_001385571.1:c.1046T>C	NP_001372500.1:p.Leu349Pro
NM_001385572.1:c.1046T>C	NP_001372501.1:p.Leu349Pro