Canonical Allele Identifier: CA126698
Gene: ESR1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16593
ClinVar RCV Id: RCV000018061
dbSNP Id: rs121913044

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151944503T>A , CM000668.2:g.151944503T>A GRCh38
NC_000006.10:g.152307331T>A NCBI36
NC_000006.11:g.152265638T>A , CM000668.1:g.152265638T>A GRCh37
NG_008493.1:g.259008T>A
NG_008493.2:g.292813T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000206249.7:c.1091T>A ENSP00000206249.3:p.Val364Glu
ENST00000338799.9:c.1091T>A ENSP00000342630.5:p.Val364Glu
ENST00000406599.5:c.453-116488T>A ENSP00000384064.1:p.=
ENST00000415488.1:n.115+63732T>A ENSP00000401995.1:p.=
ENST00000427531.6:c.572T>A ENSP00000394721.2:p.Val191Glu
ENST00000440973.5:c.1091T>A ENSP00000405330.1:p.Val364Glu
ENST00000443427.5:c.1091T>A ENSP00000387500.1:p.Val364Glu
ENST00000456483.3:c.*110+63732T>A ENSP00000415934.3:p.=
ENST00000482101.1:n.332T>A
NM_000125.3:c.1091T>A VV NP_000116.2:p.Val364Glu
NM_001122740.1:c.1091T>A VV NP_001116212.1:p.Val364Glu
NM_001122741.1:c.1091T>A VV NP_001116213.1:p.Val364Glu
NM_001122742.1:c.1091T>A VV NP_001116214.1:p.Val364Glu
NM_001291230.1:c.1097T>A VV NP_001278159.1:p.Val366Glu
NM_001291241.1:c.1088T>A VV NP_001278170.1:p.Val363Glu
XM_006715374.2:c.1091T>A XP_006715437.1:p.Val364Glu
XM_006715375.2:c.572T>A XP_006715438.1:p.Val191Glu
XM_011535543.1:c.1091T>A XP_011533845.1:p.Val364Glu
XM_011535544.1:c.1091T>A XP_011533846.1:p.Val364Glu
XM_011535545.1:c.1091T>A XP_011533847.1:p.Val364Glu
XM_011535546.1:c.1091T>A XP_011533848.1:p.Val364Glu
XM_011535547.1:c.1091T>A XP_011533849.1:p.Val364Glu
XM_011535548.1:c.572T>A XP_011533850.1:p.Val191Glu
XM_011535549.1:c.362T>A XP_011533851.1:p.Val121Glu
NM_001328100.1:c.572T>A VV NP_001315029.1:p.Val191Glu
XM_006715374.3:c.1091T>A
XM_006715375.3:c.572T>A
XM_011535543.2:c.1091T>A
XM_011535544.2:c.1091T>A
XM_011535545.2:c.1091T>A
XM_011535547.2:c.1091T>A
XM_011535549.2:c.362T>A
XM_017010376.1:c.1091T>A XP_016865865.1:p.Val364Glu
XM_017010377.1:c.1091T>A XP_016865866.1:p.Val364Glu
XM_017010378.1:c.1091T>A XP_016865867.1:p.Val364Glu
XM_017010379.1:c.1091T>A XP_016865868.1:p.Val364Glu
XM_017010380.1:c.1091T>A XP_016865869.1:p.Val364Glu
XM_017010381.1:c.1091T>A XP_016865870.1:p.Val364Glu
XM_017010382.2:c.434T>A XP_016865871.1:p.Val145Glu
XM_017010383.1:c.302T>A XP_016865872.1:p.Val101Glu
XR_001743223.2:n.1461T>A
XR_002956266.1:n.1461T>A