Canonical Allele Identifier: CA150176043
Gene: ESR1 HGNC NCBI

Linked Data

dbSNP Id: rs2747648

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152101200C>T , CM000668.2:g.152101200C>T GRCh38
NC_000006.11:g.152422335C>T , CM000668.1:g.152422335C>T GRCh37
NC_000006.10:g.152464028C>T NCBI36
NG_008493.1:g.415705C>T
NG_008493.2:g.449510C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000206249.8:c.*2234C>T MANE Select ENSP00000206249.3:p.=
ENST00000641399.1:n.1070+2280C>T
ENST00000206249.7:c.*2234C>T ENSP00000206249.3:p.=
ENST00000427531.6:c.851-24066C>T ENSP00000394721.2:p.=
ENST00000440973.5:c.*2234C>T ENSP00000405330.1:p.=
ENST00000443427.5:c.*2234C>T ENSP00000387500.1:p.=
NM_000125.3:c.*2234C>T NP_000116.2:p.=
NM_001122740.1:c.*2234C>T NP_001116212.1:p.=
NM_001122741.1:c.*2234C>T NP_001116213.1:p.=
NM_001122742.1:c.*2234C>T NP_001116214.1:p.=
NM_001291230.1:c.*2234C>T NP_001278159.1:p.=
NM_001291241.1:c.*2234C>T NP_001278170.1:p.=
XM_006715374.2:c.*2437C>T XP_006715437.1:p.=
XM_006715375.2:c.*2234C>T XP_006715438.1:p.=
XM_011535543.1:c.*2234C>T XP_011533845.1:p.=
XM_011535544.1:c.*2234C>T XP_011533846.1:p.=
XM_011535545.1:c.*2234C>T XP_011533847.1:p.=
XM_011535546.1:c.*2234C>T XP_011533848.1:p.=
XM_011535548.1:c.*2234C>T XP_011533850.1:p.=
XM_011535549.1:c.*2234C>T XP_011533851.1:p.=
NM_001328100.1:c.851-24066C>T NP_001315029.1:p.=
XM_006715374.3:c.*2437C>T XP_006715437.1:p.=
NM_000125.4:c.*2234C>T MANE Select NP_000116.2:p.=
NM_001328100.2:c.851-24066C>T NP_001315029.1:p.=
NM_001122740.2:c.*2234C>T NP_001116212.1:p.=
NM_001122741.2:c.*2234C>T NP_001116213.1:p.=
NM_001122742.2:c.*2234C>T NP_001116214.1:p.=
NM_001291230.2:c.*2234C>T NP_001278159.1:p.=
NM_001291241.2:c.*2234C>T NP_001278170.1:p.=
NM_001385568.1:c.*2234C>T NP_001372497.1:p.=
NM_001385569.1:c.*2234C>T NP_001372498.1:p.=
NM_001385570.1:c.*2437C>T NP_001372499.1:p.=
NM_001385571.1:c.*2437C>T NP_001372500.1:p.=
NM_001385572.1:c.*2437C>T NP_001372501.1:p.=