Canonical Allele Identifier: CA002892

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 186016
• ClinVar RCV Id: RCV000165536 ; RCV000241110 ; RCV000508652 ; RCV000793994 ; RCV003398845
• dbSNP Id: rs786202631
• MyVariant Identifiers: chr17:g.41226500C>T (hg19) ; chr17:g.43074483C>T (hg38)
• PubMed: PMID:25682074

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074483C>T , CM000679.2:g.43074483C>T	GRCh38
NC_000017.10:g.41226500C>T , CM000679.1:g.41226500C>T	GRCh37
NC_000017.9:g.38480026C>T	NCBI36
NG_005905.2:g.143501G>A , LRG_292:g.143501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4520G>A	ENSP00000417241.2:p.Trp1507Ter
ENST00000470026.6:c.4523G>A	ENSP00000419274.2:p.Trp1508Ter
ENST00000473961.6:c.4397G>A	ENSP00000420201.2:p.Trp1466Ter
ENST00000476777.6:c.4517G>A	ENSP00000417554.2:p.Trp1506Ter
ENST00000477152.6:c.4445G>A	ENSP00000419988.2:p.Trp1482Ter
ENST00000478531.6:c.1211G>A	ENSP00000420412.2:p.Trp404Ter
ENST00000489037.2:c.4445G>A	ENSP00000420781.2:p.Trp1482Ter
ENST00000493919.6:c.1073G>A	ENSP00000418819.2:p.Trp358Ter
ENST00000494123.6:c.4523G>A	ENSP00000419103.2:p.Trp1508Ter
ENST00000497488.2:c.3635G>A	ENSP00000418986.2:p.Trp1212Ter
ENST00000618469.2:c.4523G>A	ENSP00000478114.2:p.Trp1508Ter
ENST00000634433.2:c.4400G>A	ENSP00000489431.2:p.Trp1467Ter
ENST00000644379.2:c.4589G>A	ENSP00000496570.2:p.Trp1530Ter
ENST00000644555.2:c.1073G>A	ENSP00000494614.2:p.Trp358Ter
ENST00000652672.2:c.4382G>A	ENSP00000498906.2:p.Trp1461Ter
ENST00000484087.6:c.1085G>A	ENSP00000419481.2:p.Trp362Ter
ENST00000700182.1:c.1130G>A	ENSP00000514849.1:p.Trp377Ter
ENST00000357654.9:c.4523G>A MANE Select	ENSP00000350283.3:p.Trp1508Ter
ENST00000471181.7:c.4586G>A	ENSP00000418960.2:p.Trp1529Ter
ENST00000644379.1:c.910G>A
ENST00000352993.7:c.1097G>A	ENSP00000312236.5:p.Trp366Ter
ENST00000357654.7:c.4523G>A	ENSP00000350283.3:p.Trp1508Ter
ENST00000461221.5:c.*4306G>A	ENSP00000418548.1:n.*4306G>A
ENST00000468300.5:c.1211G>A	ENSP00000417148.1:p.Trp404Ter
ENST00000471181.6:c.4586G>A	ENSP00000418960.2:p.Trp1529Ter
ENST00000478531.5:c.1211G>A	ENSP00000420412.1:p.Trp404Ter
ENST00000484087.5:c.836G>A	ENSP00000419481.1:p.Trp279Ter
ENST00000491747.6:c.1211G>A	ENSP00000420705.2:p.Trp404Ter
ENST00000493795.5:c.4382G>A	ENSP00000418775.1:p.Trp1461Ter
ENST00000493919.5:c.1073G>A	ENSP00000418819.1:p.Trp358Ter
ENST00000586385.5:c.5-10532G>A	ENSP00000465818.1:n.5-10532G>A
ENST00000591534.5:c.-5G>A	ENSP00000467329.1:n.-5G>A
ENST00000591849.5:c.-98-24293G>A	ENSP00000465347.1:n.-98-24293G>A
NM_007294.3:c.4523G>A , LRG_292t1:c.4523G>A	NP_009225.1:p.Trp1508Ter
NM_007297.3:c.4382G>A	NP_009228.2:p.Trp1461Ter
NM_007298.3:c.1211G>A	NP_009229.2:p.Trp404Ter
NM_007299.3:c.1211G>A	NP_009230.2:p.Trp404Ter
NM_007300.3:c.4586G>A	NP_009231.2:p.Trp1529Ter
NR_027676.1:n.4659G>A
NM_007294.4:c.4523G>A MANE Select	NP_009225.1:p.Trp1508Ter
NM_007297.4:c.4382G>A	NP_009228.2:p.Trp1461Ter
NM_007299.4:c.1211G>A	NP_009230.2:p.Trp404Ter
NM_007300.4:c.4586G>A	NP_009231.2:p.Trp1529Ter
NR_027676.2:n.4700G>A