Canonical Allele Identifier: CA2581614303

Gene: ESR1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151738428G>C , CM000668.2:g.151738428G>C	GRCh38
NC_000006.11:g.152059563G>C , CM000668.1:g.152059563G>C	GRCh37
NC_000006.10:g.152101256G>C	NCBI36
NG_008493.1:g.52933G>C
NG_008493.2:g.86738G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404742.5:c.-71+36423G>C	ENSP00000385373.1:n.-71+36423G>C
ENST00000440973.5:c.-71+36423G>C	ENSP00000405330.1:n.-71+36423G>C
ENST00000473497.5:n.204+36423G>C
NM_001122742.1:c.-71+36423G>C	NP_001116214.1:n.-71+36423G>C
XM_006715374.2:c.-71+36423G>C	XP_006715437.1:n.-71+36423G>C
XM_011535543.1:c.-184-19052G>C	XP_011533845.1:n.-184-19052G>C
XM_011535547.1:c.-71+36423G>C	XP_011533849.1:n.-71+36423G>C
XM_006715374.3:c.-71+36423G>C	XP_006715437.1:n.-71+36423G>C
XM_011535543.2:c.-184-19052G>C	XP_011533845.1:n.-184-19052G>C
XM_011535547.2:c.-71+36423G>C	XP_011533849.1:n.-71+36423G>C
XM_017010376.1:c.-71+36423G>C	XP_016865865.1:n.-71+36423G>C
XM_017010377.1:c.-71+36423G>C	XP_016865866.1:n.-71+36423G>C
XM_017010378.1:c.-71+36423G>C	XP_016865867.1:n.-71+36423G>C
XM_017010379.1:c.-71+36423G>C	XP_016865868.1:n.-71+36423G>C
XM_017010380.1:c.-70-69415G>C	XP_016865869.1:n.-70-69415G>C
XR_001743223.2:n.300+36423G>C
XR_002956266.1:n.300+36423G>C
NM_001122742.2:c.-71+36423G>C	NP_001116214.1:n.-71+36423G>C
NM_001385568.1:c.-71+36423G>C	NP_001372497.1:n.-71+36423G>C
NM_001385570.1:c.-71+36423G>C	NP_001372499.1:n.-71+36423G>C