Canonical Allele Identifier: CA366213474
Gene: ESR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151944413C>A , CM000668.2:g.151944413C>A GRCh38
NC_000006.11:g.152265548C>A , CM000668.1:g.152265548C>A GRCh37
NC_000006.10:g.152307241C>A NCBI36
NG_008493.1:g.258918C>A
NG_008493.2:g.292723C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000206249.8:c.1001C>A MANE Select ENSP00000206249.3:p.Thr334Asn
ENST00000638569.1:n.42+164C>A ENSP00000491412.1:p.=
ENST00000641399.1:n.329C>A
ENST00000206249.7:c.1001C>A ENSP00000206249.3:p.Thr334Asn
ENST00000338799.9:c.1001C>A ENSP00000342630.5:p.Thr334Asn
ENST00000406599.5:c.453-116578C>A ENSP00000384064.1:p.=
ENST00000415488.1:n.115+63642C>A ENSP00000401995.1:p.=
ENST00000427531.6:c.482C>A ENSP00000394721.2:p.Thr161Asn
ENST00000440973.5:c.1001C>A ENSP00000405330.1:p.Thr334Asn
ENST00000443427.5:c.1001C>A ENSP00000387500.1:p.Thr334Asn
ENST00000456483.3:c.*110+63642C>A ENSP00000415934.3:p.=
ENST00000482101.1:n.242C>A
NM_000125.3:c.1001C>A NP_000116.2:p.Thr334Asn
NM_001122740.1:c.1001C>A NP_001116212.1:p.Thr334Asn
NM_001122741.1:c.1001C>A NP_001116213.1:p.Thr334Asn
NM_001122742.1:c.1001C>A NP_001116214.1:p.Thr334Asn
NM_001291230.1:c.1007C>A NP_001278159.1:p.Thr336Asn
NM_001291241.1:c.998C>A NP_001278170.1:p.Thr333Asn
XM_006715374.2:c.1001C>A XP_006715437.1:p.Thr334Asn
XM_006715375.2:c.482C>A XP_006715438.1:p.Thr161Asn
XM_011535543.1:c.1001C>A XP_011533845.1:p.Thr334Asn
XM_011535544.1:c.1001C>A XP_011533846.1:p.Thr334Asn
XM_011535545.1:c.1001C>A XP_011533847.1:p.Thr334Asn
XM_011535546.1:c.1001C>A XP_011533848.1:p.Thr334Asn
XM_011535547.1:c.1001C>A XP_011533849.1:p.Thr334Asn
XM_011535548.1:c.482C>A XP_011533850.1:p.Thr161Asn
XM_011535549.1:c.272C>A XP_011533851.1:p.Thr91Asn
NM_001328100.1:c.482C>A NP_001315029.1:p.Thr161Asn
XM_006715374.3:c.1001C>A XP_006715437.1:p.Thr334Asn
XM_006715375.3:c.482C>A XP_006715438.1:p.Thr161Asn
XM_011535543.2:c.1001C>A XP_011533845.1:p.Thr334Asn
XM_011535544.2:c.1001C>A XP_011533846.1:p.Thr334Asn
XM_011535545.2:c.1001C>A XP_011533847.1:p.Thr334Asn
XM_011535547.2:c.1001C>A XP_011533849.1:p.Thr334Asn
XM_011535549.2:c.272C>A XP_011533851.1:p.Thr91Asn
XM_017010376.1:c.1001C>A XP_016865865.1:p.Thr334Asn
XM_017010377.1:c.1001C>A XP_016865866.1:p.Thr334Asn
XM_017010378.1:c.1001C>A XP_016865867.1:p.Thr334Asn
XM_017010379.1:c.1001C>A XP_016865868.1:p.Thr334Asn
XM_017010380.1:c.1001C>A XP_016865869.1:p.Thr334Asn
XM_017010381.1:c.1001C>A XP_016865870.1:p.Thr334Asn
XM_017010382.2:c.344C>A XP_016865871.1:p.Thr115Asn
XM_017010383.1:c.212C>A XP_016865872.1:p.Thr71Asn
XR_001743223.2:n.1371C>A
XR_002956266.1:n.1371C>A
NM_000125.4:c.1001C>A MANE Select NP_000116.2:p.Thr334Asn
NM_001328100.2:c.482C>A NP_001315029.1:p.Thr161Asn
NM_001122740.2:c.1001C>A NP_001116212.1:p.Thr334Asn
NM_001122741.2:c.1001C>A NP_001116213.1:p.Thr334Asn
NM_001122742.2:c.1001C>A NP_001116214.1:p.Thr334Asn
NM_001291230.2:c.1007C>A NP_001278159.1:p.Thr336Asn
NM_001291241.2:c.998C>A NP_001278170.1:p.Thr333Asn
NM_001385568.1:c.1001C>A NP_001372497.1:p.Thr334Asn
NM_001385569.1:c.1001C>A NP_001372498.1:p.Thr334Asn
NM_001385570.1:c.1001C>A NP_001372499.1:p.Thr334Asn
NM_001385571.1:c.1001C>A NP_001372500.1:p.Thr334Asn
NM_001385572.1:c.1001C>A NP_001372501.1:p.Thr334Asn