Canonical Allele Identifier: CA500142870

Gene: BRCA1

Linked Data

• dbSNP Id: rs2152483157
• MyVariant Identifiers: chr17:g.41197704G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045687G>A , CM000679.2:g.43045687G>A	GRCh38
NC_000017.10:g.41197704G>A , CM000679.1:g.41197704G>A	GRCh37
NC_000017.9:g.38451230G>A	NCBI36
NG_005905.2:g.172297C>T , LRG_292:g.172297C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5580C>T	ENSP00000417241.2:p.Ser1860=
ENST00000470026.6:c.5583C>T	ENSP00000419274.2:p.Ser1861=
ENST00000473961.6:c.5457C>T	ENSP00000420201.2:p.Ser1819=
ENST00000476777.6:c.5577C>T	ENSP00000417554.2:p.Ser1859=
ENST00000477152.6:c.5505C>T	ENSP00000419988.2:p.Ser1835=
ENST00000478531.6:c.2271C>T	ENSP00000420412.2:p.Ser757=
ENST00000489037.2:c.5505C>T	ENSP00000420781.2:p.Ser1835=
ENST00000493919.6:c.2133C>T	ENSP00000418819.2:p.Ser711=
ENST00000494123.6:c.5583C>T	ENSP00000419103.2:p.Ser1861=
ENST00000497488.2:c.4695C>T	ENSP00000418986.2:p.Ser1565=
ENST00000618469.2:c.5583C>T	ENSP00000478114.2:p.Ser1861=
ENST00000634433.2:c.5460C>T	ENSP00000489431.2:p.Ser1820=
ENST00000644379.2:c.5649C>T	ENSP00000496570.2:p.Ser1883=
ENST00000644555.2:c.2133C>T	ENSP00000494614.2:p.Ser711=
ENST00000652672.2:c.5442C>T	ENSP00000498906.2:p.Ser1814=
ENST00000484087.6:c.2145C>T	ENSP00000419481.2:p.Ser715=
ENST00000700081.1:n.1466C>T
ENST00000700082.1:n.947C>T
ENST00000357654.9:c.5583C>T MANE Select	ENSP00000350283.3:p.Ser1861=
ENST00000471181.7:c.5646C>T	ENSP00000418960.2:p.Ser1882=
ENST00000644379.1:c.1970C>T
ENST00000352993.7:c.2157C>T	ENSP00000312236.5:p.Ser719=
ENST00000357654.7:c.5583C>T	ENSP00000350283.3:p.Ser1861=
ENST00000461221.5:c.*5366C>T	ENSP00000418548.1:n.*5366C>T
ENST00000468300.5:c.*97C>T	ENSP00000417148.1:n.*97C>T
ENST00000471181.6:c.5646C>T	ENSP00000418960.2:p.Ser1882=
ENST00000491747.6:c.2271C>T	ENSP00000420705.2:p.Ser757=
ENST00000493795.5:c.5442C>T	ENSP00000418775.1:p.Ser1814=
ENST00000586385.5:c.513C>T	ENSP00000465818.1:p.Ser171=
ENST00000591534.5:c.1056C>T	ENSP00000467329.1:p.Ser352=
ENST00000591849.5:c.282C>T	ENSP00000465347.1:p.Ser94=
NM_007294.3:c.5583C>T , LRG_292t1:c.5583C>T	NP_009225.1:p.Ser1861=
NM_007297.3:c.5442C>T	NP_009228.2:p.Ser1814=
NM_007298.3:c.2271C>T	NP_009229.2:p.Ser757=
NM_007299.3:c.*97C>T	NP_009230.2:n.*97C>T
NM_007300.3:c.5646C>T	NP_009231.2:p.Ser1882=
NR_027676.1:n.5719C>T
NM_007294.4:c.5583C>T MANE Select	NP_009225.1:p.Ser1861=
NM_007297.4:c.5442C>T	NP_009228.2:p.Ser1814=
NM_007299.4:c.*97C>T	NP_009230.2:n.*97C>T
NM_007300.4:c.5646C>T	NP_009231.2:p.Ser1882=
NR_027676.2:n.5760C>T