Canonical Allele Identifier: CA003330

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063340A>T , CM000679.2:g.43063340A>T	GRCh38
NC_000017.10:g.41215357A>T , CM000679.1:g.41215357A>T	GRCh37
NC_000017.9:g.38468883A>T	NCBI36
NG_005905.2:g.154644T>A , LRG_292:g.154644T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5183T>A	ENSP00000417241.2:p.Leu1728Gln
ENST00000470026.6:c.5186T>A	ENSP00000419274.2:p.Leu1729Gln
ENST00000473961.6:c.5060T>A	ENSP00000420201.2:p.Leu1687Gln
ENST00000476777.6:c.5180T>A	ENSP00000417554.2:p.Leu1727Gln
ENST00000477152.6:c.5108T>A	ENSP00000419988.2:p.Leu1703Gln
ENST00000478531.6:c.1874T>A	ENSP00000420412.2:p.Leu625Gln
ENST00000489037.2:c.5108T>A	ENSP00000420781.2:p.Leu1703Gln
ENST00000493919.6:c.1736T>A	ENSP00000418819.2:p.Leu579Gln
ENST00000494123.6:c.5186T>A	ENSP00000419103.2:p.Leu1729Gln
ENST00000497488.2:c.4298T>A	ENSP00000418986.2:p.Leu1433Gln
ENST00000618469.2:c.5186T>A	ENSP00000478114.2:p.Leu1729Gln
ENST00000634433.2:c.5063T>A	ENSP00000489431.2:p.Leu1688Gln
ENST00000644379.2:c.5252T>A	ENSP00000496570.2:p.Leu1751Gln
ENST00000644555.2:c.1736T>A	ENSP00000494614.2:p.Leu579Gln
ENST00000652672.2:c.5045T>A	ENSP00000498906.2:p.Leu1682Gln
ENST00000484087.6:c.1748T>A	ENSP00000419481.2:p.Leu583Gln
ENST00000357654.9:c.5186T>A MANE Select	ENSP00000350283.3:p.Leu1729Gln
ENST00000471181.7:c.5249T>A	ENSP00000418960.2:p.Leu1750Gln
ENST00000644379.1:c.1573T>A
ENST00000352993.7:c.1760T>A	ENSP00000312236.5:p.Leu587Gln
ENST00000357654.7:c.5186T>A	ENSP00000350283.3:p.Leu1729Gln
ENST00000461221.5:c.*4969T>A	ENSP00000418548.1:n.*4969T>A
ENST00000468300.5:c.1874T>A	ENSP00000417148.1:p.Leu625Gln
ENST00000471181.6:c.5249T>A	ENSP00000418960.2:p.Leu1750Gln
ENST00000491747.6:c.1874T>A	ENSP00000420705.2:p.Leu625Gln
ENST00000493795.5:c.5045T>A	ENSP00000418775.1:p.Leu1682Gln
ENST00000586385.5:c.116T>A	ENSP00000465818.1:p.Leu39Gln
ENST00000591534.5:c.659T>A	ENSP00000467329.1:p.Leu220Gln
ENST00000591849.5:c.-98-13150T>A	ENSP00000465347.1:n.-98-13150T>A
NM_007294.3:c.5186T>A , LRG_292t1:c.5186T>A	NP_009225.1:p.Leu1729Gln
NM_007297.3:c.5045T>A	NP_009228.2:p.Leu1682Gln
NM_007298.3:c.1874T>A	NP_009229.2:p.Leu625Gln
NM_007299.3:c.1874T>A	NP_009230.2:p.Leu625Gln
NM_007300.3:c.5249T>A	NP_009231.2:p.Leu1750Gln
NR_027676.1:n.5322T>A
NM_007294.4:c.5186T>A MANE Select	NP_009225.1:p.Leu1729Gln
NM_007297.4:c.5045T>A	NP_009228.2:p.Leu1682Gln
NM_007299.4:c.1874T>A	NP_009230.2:p.Leu625Gln
NM_007300.4:c.5249T>A	NP_009231.2:p.Leu1750Gln
NR_027676.2:n.5363T>A