Canonical Allele Identifier: CA003551

Gene: BRCA1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049126C>T , CM000679.2:g.43049126C>T	GRCh38
NC_000017.10:g.41201143C>T , CM000679.1:g.41201143C>T	GRCh37
NC_000017.9:g.38454669C>T	NCBI36
NG_005905.2:g.168858G>A , LRG_292:g.168858G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5398G>A	ENSP00000417241.2:p.Gly1800Ser
ENST00000470026.6:c.5401G>A	ENSP00000419274.2:p.Gly1801Ser
ENST00000473961.6:c.5275G>A	ENSP00000420201.2:p.Gly1759Ser
ENST00000476777.6:c.5395G>A	ENSP00000417554.2:p.Gly1799Ser
ENST00000477152.6:c.5323G>A	ENSP00000419988.2:p.Gly1775Ser
ENST00000478531.6:c.2089G>A	ENSP00000420412.2:p.Gly697Ser
ENST00000489037.2:c.5323G>A	ENSP00000420781.2:p.Gly1775Ser
ENST00000493919.6:c.1951G>A	ENSP00000418819.2:p.Gly651Ser
ENST00000494123.6:c.5401G>A	ENSP00000419103.2:p.Gly1801Ser
ENST00000497488.2:c.4513G>A	ENSP00000418986.2:p.Gly1505Ser
ENST00000618469.2:c.5401G>A	ENSP00000478114.2:p.Gly1801Ser
ENST00000634433.2:c.5278G>A	ENSP00000489431.2:p.Gly1760Ser
ENST00000644379.2:c.5467G>A	ENSP00000496570.2:p.Gly1823Ser
ENST00000644555.2:c.1951G>A	ENSP00000494614.2:p.Gly651Ser
ENST00000652672.2:c.5260G>A	ENSP00000498906.2:p.Gly1754Ser
ENST00000484087.6:c.1963G>A	ENSP00000419481.2:p.Gly655Ser
ENST00000700081.1:n.1284G>A
ENST00000357654.9:c.5401G>A MANE Select	ENSP00000350283.3:p.Gly1801Ser
ENST00000471181.7:c.5464G>A	ENSP00000418960.2:p.Gly1822Ser
ENST00000644379.1:c.1788G>A
ENST00000352993.7:c.1975G>A	ENSP00000312236.5:p.Gly659Ser
ENST00000357654.7:c.5401G>A	ENSP00000350283.3:p.Gly1801Ser
ENST00000461221.5:c.*5184G>A	ENSP00000418548.1:n.*5184G>A
ENST00000468300.5:c.2021-1423G>A	ENSP00000417148.1:n.2021-1423G>A
ENST00000471181.6:c.5464G>A	ENSP00000418960.2:p.Gly1822Ser
ENST00000491747.6:c.2089G>A	ENSP00000420705.2:p.Gly697Ser
ENST00000493795.5:c.5260G>A	ENSP00000418775.1:p.Gly1754Ser
ENST00000586385.5:c.331G>A	ENSP00000465818.1:p.Gly111Ser
ENST00000591534.5:c.874G>A	ENSP00000467329.1:p.Gly292Ser
ENST00000591849.5:c.100G>A	ENSP00000465347.1:p.Gly34Ser
NM_007294.3:c.5401G>A , LRG_292t1:c.5401G>A	NP_009225.1:p.Gly1801Ser
NM_007297.3:c.5260G>A	NP_009228.2:p.Gly1754Ser
NM_007298.3:c.2089G>A	NP_009229.2:p.Gly697Ser
NM_007299.3:c.2021-1423G>A	NP_009230.2:n.2021-1423G>A
NM_007300.3:c.5464G>A	NP_009231.2:p.Gly1822Ser
NR_027676.1:n.5537G>A
NM_007294.4:c.5401G>A MANE Select	NP_009225.1:p.Gly1801Ser
NM_007297.4:c.5260G>A	NP_009228.2:p.Gly1754Ser
NM_007299.4:c.2021-1423G>A	NP_009230.2:n.2021-1423G>A
NM_007300.4:c.5464G>A	NP_009231.2:p.Gly1822Ser
NR_027676.2:n.5578G>A