Canonical Allele Identifier: CA10592586

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 953812
• ClinVar RCV Id: RCV001226160
• dbSNP Id: rs2052719695
• MyVariant Identifiers: chr17:g.41228517G>C (hg19) ; chr17:g.43076500G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076500G>C , CM000679.2:g.43076500G>C	GRCh38
NC_000017.10:g.41228517G>C , CM000679.1:g.41228517G>C	GRCh37
NC_000017.9:g.38482043G>C	NCBI36
NG_005905.2:g.141484C>G , LRG_292:g.141484C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4469C>G	ENSP00000417241.2:p.Pro1490Arg
ENST00000470026.6:c.4472C>G	ENSP00000419274.2:p.Pro1491Arg
ENST00000473961.6:c.4346C>G	ENSP00000420201.2:p.Pro1449Arg
ENST00000476777.6:c.4466C>G	ENSP00000417554.2:p.Pro1489Arg
ENST00000477152.6:c.4394C>G	ENSP00000419988.2:p.Pro1465Arg
ENST00000478531.6:c.1160C>G	ENSP00000420412.2:p.Pro387Arg
ENST00000489037.2:c.4394C>G	ENSP00000420781.2:p.Pro1465Arg
ENST00000493919.6:c.1022C>G	ENSP00000418819.2:p.Pro341Arg
ENST00000494123.6:c.4472C>G	ENSP00000419103.2:p.Pro1491Arg
ENST00000497488.2:c.3584C>G	ENSP00000418986.2:p.Pro1195Arg
ENST00000618469.2:c.4472C>G	ENSP00000478114.2:p.Pro1491Arg
ENST00000634433.2:c.4349C>G	ENSP00000489431.2:p.Pro1450Arg
ENST00000644379.2:c.4538C>G	ENSP00000496570.2:p.Pro1513Arg
ENST00000644555.2:c.1022C>G	ENSP00000494614.2:p.Pro341Arg
ENST00000652672.2:c.4331C>G	ENSP00000498906.2:p.Pro1444Arg
ENST00000484087.6:c.1034C>G	ENSP00000419481.2:p.Pro345Arg
ENST00000700182.1:c.1079C>G	ENSP00000514849.1:p.Pro360Arg
ENST00000357654.9:c.4472C>G MANE Select	ENSP00000350283.3:p.Pro1491Arg
ENST00000471181.7:c.4535C>G	ENSP00000418960.2:p.Pro1512Arg
ENST00000644379.1:c.859C>G
ENST00000352993.7:c.1046C>G	ENSP00000312236.5:p.Pro349Arg
ENST00000357654.7:c.4472C>G	ENSP00000350283.3:p.Pro1491Arg
ENST00000461221.5:c.*4255C>G	ENSP00000418548.1:n.*4255C>G
ENST00000468300.5:c.1160C>G	ENSP00000417148.1:p.Pro387Arg
ENST00000471181.6:c.4535C>G	ENSP00000418960.2:p.Pro1512Arg
ENST00000478531.5:c.1160C>G	ENSP00000420412.1:p.Pro387Arg
ENST00000484087.5:c.785C>G	ENSP00000419481.1:p.Pro262Arg
ENST00000487825.5:c.788C>G	ENSP00000418212.1:p.Pro263Arg
ENST00000491747.6:c.1160C>G	ENSP00000420705.2:p.Pro387Arg
ENST00000493795.5:c.4331C>G	ENSP00000418775.1:p.Pro1444Arg
ENST00000493919.5:c.1022C>G	ENSP00000418819.1:p.Pro341Arg
ENST00000586385.5:c.5-12549C>G	ENSP00000465818.1:n.5-12549C>G
ENST00000591534.5:c.-43-1979C>G	ENSP00000467329.1:n.-43-1979C>G
ENST00000591849.5:c.-98-26310C>G	ENSP00000465347.1:n.-98-26310C>G
ENST00000621897.1:n.363C>G
NM_007294.3:c.4472C>G , LRG_292t1:c.4472C>G	NP_009225.1:p.Pro1491Arg
NM_007297.3:c.4331C>G	NP_009228.2:p.Pro1444Arg
NM_007298.3:c.1160C>G	NP_009229.2:p.Pro387Arg
NM_007299.3:c.1160C>G	NP_009230.2:p.Pro387Arg
NM_007300.3:c.4535C>G	NP_009231.2:p.Pro1512Arg
NR_027676.1:n.4608C>G
NM_007294.4:c.4472C>G MANE Select	NP_009225.1:p.Pro1491Arg
NM_007297.4:c.4331C>G	NP_009228.2:p.Pro1444Arg
NM_007299.4:c.1160C>G	NP_009230.2:p.Pro387Arg
NM_007300.4:c.4535C>G	NP_009231.2:p.Pro1512Arg
NR_027676.2:n.4649C>G