Canonical Allele Identifier: CA366084328

Gene: ESR1

Linked Data

• dbSNP Id: rs2050455302
• gnomAD v3: 6-152094450-C-G
• gnomAD v4: 6-152094450-C-G
• MyVariant Identifiers: chr6:g.152415585C>G (hg19) ; chr6:g.152094450C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152094450C>G , CM000668.2:g.152094450C>G	GRCh38
NC_000006.11:g.152415585C>G , CM000668.1:g.152415585C>G	GRCh37
NC_000006.10:g.152457278C>G	NCBI36
NG_008493.1:g.408955C>G
NG_008493.2:g.442760C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206249.8:c.1435C>G MANE Select	ENSP00000206249.3:p.Leu479Val
ENST00000638569.1:c.43-29C>G	ENSP00000491412.1:n.43-29C>G
ENST00000641399.1:n.763C>G
ENST00000206249.7:c.1435C>G	ENSP00000206249.3:p.Leu479Val
ENST00000338799.9:c.1435C>G	ENSP00000342630.5:p.Leu479Val
ENST00000406599.5:c.652C>G	ENSP00000384064.1:p.Leu218Val
ENST00000427531.6:c.851-30816C>G	ENSP00000394721.2:n.851-30816C>G
ENST00000440973.5:c.1435C>G	ENSP00000405330.1:p.Leu479Val
ENST00000443427.5:c.1435C>G	ENSP00000387500.1:p.Leu479Val
ENST00000456483.3:c.*310C>G	ENSP00000415934.3:n.*310C>G
NM_000125.3:c.1435C>G	NP_000116.2:p.Leu479Val
NM_001122740.1:c.1435C>G	NP_001116212.1:p.Leu479Val
NM_001122741.1:c.1435C>G	NP_001116213.1:p.Leu479Val
NM_001122742.1:c.1435C>G	NP_001116214.1:p.Leu479Val
NM_001291230.1:c.1441C>G	NP_001278159.1:p.Leu481Val
NM_001291241.1:c.1432C>G	NP_001278170.1:p.Leu478Val
XM_006715374.2:c.1370-4282C>G	XP_006715437.1:n.1370-4282C>G
XM_006715375.2:c.916C>G	XP_006715438.1:p.Leu306Val
XM_011535543.1:c.1435C>G	XP_011533845.1:p.Leu479Val
XM_011535544.1:c.1435C>G	XP_011533846.1:p.Leu479Val
XM_011535545.1:c.1435C>G	XP_011533847.1:p.Leu479Val
XM_011535546.1:c.1435C>G	XP_011533848.1:p.Leu479Val
XM_011535548.1:c.916C>G	XP_011533850.1:p.Leu306Val
XM_011535549.1:c.706C>G	XP_011533851.1:p.Leu236Val
NM_001328100.1:c.851-30816C>G	NP_001315029.1:n.851-30816C>G
XM_006715374.3:c.1370-4282C>G	XP_006715437.1:n.1370-4282C>G
XM_006715375.3:c.916C>G	XP_006715438.1:p.Leu306Val
XM_011535543.2:c.1435C>G	XP_011533845.1:p.Leu479Val
XM_011535544.2:c.1435C>G	XP_011533846.1:p.Leu479Val
XM_011535545.2:c.1435C>G	XP_011533847.1:p.Leu479Val
XM_011535549.2:c.706C>G	XP_011533851.1:p.Leu236Val
XM_017010376.1:c.1435C>G	XP_016865865.1:p.Leu479Val
XM_017010377.1:c.1435C>G	XP_016865866.1:p.Leu479Val
XM_017010378.1:c.1435C>G	XP_016865867.1:p.Leu479Val
XM_017010379.1:c.1435C>G	XP_016865868.1:p.Leu479Val
XM_017010380.1:c.1435C>G	XP_016865869.1:p.Leu479Val
XM_017010381.1:c.1435C>G	XP_016865870.1:p.Leu479Val
XM_017010382.2:c.778C>G	XP_016865871.1:p.Leu260Val
XM_017010383.1:c.646C>G	XP_016865872.1:p.Leu216Val
XR_001743223.2:n.1601-4282C>G
XR_002956266.1:n.1666C>G
NM_000125.4:c.1435C>G MANE Select	NP_000116.2:p.Leu479Val
NM_001328100.2:c.851-30816C>G	NP_001315029.1:n.851-30816C>G
NM_001122740.2:c.1435C>G	NP_001116212.1:p.Leu479Val
NM_001122741.2:c.1435C>G	NP_001116213.1:p.Leu479Val
NM_001122742.2:c.1435C>G	NP_001116214.1:p.Leu479Val
NM_001291230.2:c.1441C>G	NP_001278159.1:p.Leu481Val
NM_001291241.2:c.1432C>G	NP_001278170.1:p.Leu478Val
NM_001385568.1:c.1435C>G	NP_001372497.1:p.Leu479Val
NM_001385569.1:c.1435C>G	NP_001372498.1:p.Leu479Val
NM_001385570.1:c.1370-4282C>G	NP_001372499.1:n.1370-4282C>G
NM_001385571.1:c.1370-4282C>G	NP_001372500.1:n.1370-4282C>G
NM_001385572.1:c.1370-4282C>G	NP_001372501.1:n.1370-4282C>G