Canonical Allele Identifier: CA10592575

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2698834
• ClinVar RCV Id: RCV003530428
• dbSNP Id: rs2154057576
• MyVariant Identifiers: chr17:g.41228511A>G (hg19) ; chr17:g.43076494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076494A>G , CM000679.2:g.43076494A>G	GRCh38
NC_000017.10:g.41228511A>G , CM000679.1:g.41228511A>G	GRCh37
NC_000017.9:g.38482037A>G	NCBI36
NG_005905.2:g.141490T>C , LRG_292:g.141490T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4475T>C	ENSP00000417241.2:p.Val1492Ala
ENST00000470026.6:c.4478T>C	ENSP00000419274.2:p.Val1493Ala
ENST00000473961.6:c.4352T>C	ENSP00000420201.2:p.Val1451Ala
ENST00000476777.6:c.4472T>C	ENSP00000417554.2:p.Val1491Ala
ENST00000477152.6:c.4400T>C	ENSP00000419988.2:p.Val1467Ala
ENST00000478531.6:c.1166T>C	ENSP00000420412.2:p.Val389Ala
ENST00000489037.2:c.4400T>C	ENSP00000420781.2:p.Val1467Ala
ENST00000493919.6:c.1028T>C	ENSP00000418819.2:p.Val343Ala
ENST00000494123.6:c.4478T>C	ENSP00000419103.2:p.Val1493Ala
ENST00000497488.2:c.3590T>C	ENSP00000418986.2:p.Val1197Ala
ENST00000618469.2:c.4478T>C	ENSP00000478114.2:p.Val1493Ala
ENST00000634433.2:c.4355T>C	ENSP00000489431.2:p.Val1452Ala
ENST00000644379.2:c.4544T>C	ENSP00000496570.2:p.Val1515Ala
ENST00000644555.2:c.1028T>C	ENSP00000494614.2:p.Val343Ala
ENST00000652672.2:c.4337T>C	ENSP00000498906.2:p.Val1446Ala
ENST00000484087.6:c.1040T>C	ENSP00000419481.2:p.Val347Ala
ENST00000700182.1:c.1085T>C	ENSP00000514849.1:p.Val362Ala
ENST00000357654.9:c.4478T>C MANE Select	ENSP00000350283.3:p.Val1493Ala
ENST00000471181.7:c.4541T>C	ENSP00000418960.2:p.Val1514Ala
ENST00000644379.1:c.865T>C
ENST00000352993.7:c.1052T>C	ENSP00000312236.5:p.Val351Ala
ENST00000357654.7:c.4478T>C	ENSP00000350283.3:p.Val1493Ala
ENST00000461221.5:c.*4261T>C	ENSP00000418548.1:n.*4261T>C
ENST00000468300.5:c.1166T>C	ENSP00000417148.1:p.Val389Ala
ENST00000471181.6:c.4541T>C	ENSP00000418960.2:p.Val1514Ala
ENST00000478531.5:c.1166T>C	ENSP00000420412.1:p.Val389Ala
ENST00000484087.5:c.791T>C	ENSP00000419481.1:p.Val264Ala
ENST00000487825.5:c.794T>C	ENSP00000418212.1:p.Val265Ala
ENST00000491747.6:c.1166T>C	ENSP00000420705.2:p.Val389Ala
ENST00000493795.5:c.4337T>C	ENSP00000418775.1:p.Val1446Ala
ENST00000493919.5:c.1028T>C	ENSP00000418819.1:p.Val343Ala
ENST00000586385.5:c.5-12543T>C	ENSP00000465818.1:n.5-12543T>C
ENST00000591534.5:c.-43-1973T>C	ENSP00000467329.1:n.-43-1973T>C
ENST00000591849.5:c.-98-26304T>C	ENSP00000465347.1:n.-98-26304T>C
ENST00000621897.1:n.369T>C
NM_007294.3:c.4478T>C , LRG_292t1:c.4478T>C	NP_009225.1:p.Val1493Ala
NM_007297.3:c.4337T>C	NP_009228.2:p.Val1446Ala
NM_007298.3:c.1166T>C	NP_009229.2:p.Val389Ala
NM_007299.3:c.1166T>C	NP_009230.2:p.Val389Ala
NM_007300.3:c.4541T>C	NP_009231.2:p.Val1514Ala
NR_027676.1:n.4614T>C
NM_007294.4:c.4478T>C MANE Select	NP_009225.1:p.Val1493Ala
NM_007297.4:c.4337T>C	NP_009228.2:p.Val1446Ala
NM_007299.4:c.1166T>C	NP_009230.2:p.Val389Ala
NM_007300.4:c.4541T>C	NP_009231.2:p.Val1514Ala
NR_027676.2:n.4655T>C