Canonical Allele Identifier: CA500142913

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045767G>T , CM000679.2:g.43045767G>T	GRCh38
NC_000017.10:g.41197784G>T , CM000679.1:g.41197784G>T	GRCh37
NC_000017.9:g.38451310G>T	NCBI36
NG_005905.2:g.172217C>A , LRG_292:g.172217C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5500C>A	ENSP00000417241.2:p.Arg1834=
ENST00000470026.6:c.5503C>A	ENSP00000419274.2:p.Arg1835=
ENST00000473961.6:c.5377C>A	ENSP00000420201.2:p.Arg1793=
ENST00000476777.6:c.5497C>A	ENSP00000417554.2:p.Arg1833=
ENST00000477152.6:c.5425C>A	ENSP00000419988.2:p.Arg1809=
ENST00000478531.6:c.2191C>A	ENSP00000420412.2:p.Arg731=
ENST00000489037.2:c.5425C>A	ENSP00000420781.2:p.Arg1809=
ENST00000493919.6:c.2053C>A	ENSP00000418819.2:p.Arg685=
ENST00000494123.6:c.5503C>A	ENSP00000419103.2:p.Arg1835=
ENST00000497488.2:c.4615C>A	ENSP00000418986.2:p.Arg1539=
ENST00000618469.2:c.5503C>A	ENSP00000478114.2:p.Arg1835=
ENST00000634433.2:c.5380C>A	ENSP00000489431.2:p.Arg1794=
ENST00000644379.2:c.5569C>A	ENSP00000496570.2:p.Arg1857=
ENST00000644555.2:c.2053C>A	ENSP00000494614.2:p.Arg685=
ENST00000652672.2:c.5362C>A	ENSP00000498906.2:p.Arg1788=
ENST00000484087.6:c.2065C>A	ENSP00000419481.2:p.Arg689=
ENST00000700081.1:n.1386C>A
ENST00000700082.1:n.867C>A
ENST00000357654.9:c.5503C>A MANE Select	ENSP00000350283.3:p.Arg1835=
ENST00000471181.7:c.5566C>A	ENSP00000418960.2:p.Arg1856=
ENST00000644379.1:c.1890C>A
ENST00000352993.7:c.2077C>A	ENSP00000312236.5:p.Arg693=
ENST00000357654.7:c.5503C>A	ENSP00000350283.3:p.Arg1835=
ENST00000461221.5:c.*5286C>A	ENSP00000418548.1:n.*5286C>A
ENST00000468300.5:c.*17C>A	ENSP00000417148.1:n.*17C>A
ENST00000471181.6:c.5566C>A	ENSP00000418960.2:p.Arg1856=
ENST00000491747.6:c.2191C>A	ENSP00000420705.2:p.Arg731=
ENST00000493795.5:c.5362C>A	ENSP00000418775.1:p.Arg1788=
ENST00000586385.5:c.433C>A	ENSP00000465818.1:p.Arg145=
ENST00000591534.5:c.976C>A	ENSP00000467329.1:p.Arg326=
ENST00000591849.5:c.202C>A	ENSP00000465347.1:p.Arg68=
NM_007294.3:c.5503C>A , LRG_292t1:c.5503C>A	NP_009225.1:p.Arg1835=
NM_007297.3:c.5362C>A	NP_009228.2:p.Arg1788=
NM_007298.3:c.2191C>A	NP_009229.2:p.Arg731=
NM_007299.3:c.*17C>A	NP_009230.2:n.*17C>A
NM_007300.3:c.5566C>A	NP_009231.2:p.Arg1856=
NR_027676.1:n.5639C>A
NM_007294.4:c.5503C>A MANE Select	NP_009225.1:p.Arg1835=
NM_007297.4:c.5362C>A	NP_009228.2:p.Arg1788=
NM_007299.4:c.*17C>A	NP_009230.2:n.*17C>A
NM_007300.4:c.5566C>A	NP_009231.2:p.Arg1856=
NR_027676.2:n.5680C>A