Canonical Allele Identifier: CA820837361

Gene: ESR1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151749010T>A , CM000668.2:g.151749010T>A	GRCh38
NC_000006.11:g.152070145T>A , CM000668.1:g.152070145T>A	GRCh37
NC_000006.10:g.152111838T>A	NCBI36
NG_008493.1:g.63515T>A
NG_008493.2:g.97320T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404742.5:c.-71+47005T>A	ENSP00000385373.1:n.-71+47005T>A
ENST00000440973.5:c.-71+47005T>A	ENSP00000405330.1:n.-71+47005T>A
ENST00000473497.5:n.204+47005T>A
NM_001122742.1:c.-71+47005T>A	NP_001116214.1:n.-71+47005T>A
XM_006715374.2:c.-71+47005T>A	XP_006715437.1:n.-71+47005T>A
XM_011535543.1:c.-184-8470T>A	XP_011533845.1:n.-184-8470T>A
XM_011535547.1:c.-71+47005T>A	XP_011533849.1:n.-71+47005T>A
XR_943117.1:n.3233A>T
XR_943118.1:n.3193A>T
XM_006715374.3:c.-71+47005T>A	XP_006715437.1:n.-71+47005T>A
XM_011535543.2:c.-184-8470T>A	XP_011533845.1:n.-184-8470T>A
XM_011535547.2:c.-71+47005T>A	XP_011533849.1:n.-71+47005T>A
XM_017010376.1:c.-71+47005T>A	XP_016865865.1:n.-71+47005T>A
XM_017010377.1:c.-71+47005T>A	XP_016865866.1:n.-71+47005T>A
XM_017010378.1:c.-71+47005T>A	XP_016865867.1:n.-71+47005T>A
XM_017010379.1:c.-71+47005T>A	XP_016865868.1:n.-71+47005T>A
XM_017010380.1:c.-70-58833T>A	XP_016865869.1:n.-70-58833T>A
XR_001743223.2:n.300+47005T>A
XR_002956266.1:n.300+47005T>A
NM_001122742.2:c.-71+47005T>A	NP_001116214.1:n.-71+47005T>A
NM_001385568.1:c.-71+47005T>A	NP_001372497.1:n.-71+47005T>A
NM_001385570.1:c.-71+47005T>A	NP_001372499.1:n.-71+47005T>A