Canonical Allele Identifier: CA003361

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55458
• ClinVar RCV Id: RCV000112564
• dbSNP Id: rs80357496
• MyVariant Identifiers: chr17:g.41209137T>A (hg19) ; chr17:g.43057120T>A (hg38)
• PubMed: PMID:16280041 ; PMID:19770520

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057120T>A , CM000679.2:g.43057120T>A	GRCh38
NC_000017.10:g.41209137T>A , CM000679.1:g.41209137T>A	GRCh37
NC_000017.9:g.38462663T>A	NCBI36
NG_005905.2:g.160864A>T , LRG_292:g.160864A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5206A>T	ENSP00000417241.2:p.Arg1736Ter
ENST00000470026.6:c.5209A>T	ENSP00000419274.2:p.Arg1737Ter
ENST00000473961.6:c.5083A>T	ENSP00000420201.2:p.Arg1695Ter
ENST00000476777.6:c.5203A>T	ENSP00000417554.2:p.Arg1735Ter
ENST00000477152.6:c.5131A>T	ENSP00000419988.2:p.Arg1711Ter
ENST00000478531.6:c.1897A>T	ENSP00000420412.2:p.Arg633Ter
ENST00000489037.2:c.5131A>T	ENSP00000420781.2:p.Arg1711Ter
ENST00000493919.6:c.1759A>T	ENSP00000418819.2:p.Arg587Ter
ENST00000494123.6:c.5209A>T	ENSP00000419103.2:p.Arg1737Ter
ENST00000497488.2:c.4321A>T	ENSP00000418986.2:p.Arg1441Ter
ENST00000618469.2:c.5209A>T	ENSP00000478114.2:p.Arg1737Ter
ENST00000634433.2:c.5086A>T	ENSP00000489431.2:p.Arg1696Ter
ENST00000644379.2:c.5275A>T	ENSP00000496570.2:p.Arg1759Ter
ENST00000644555.2:c.1759A>T	ENSP00000494614.2:p.Arg587Ter
ENST00000652672.2:c.5068A>T	ENSP00000498906.2:p.Arg1690Ter
ENST00000484087.6:c.1771A>T	ENSP00000419481.2:p.Arg591Ter
ENST00000357654.9:c.5209A>T MANE Select	ENSP00000350283.3:p.Arg1737Ter
ENST00000471181.7:c.5272A>T	ENSP00000418960.2:p.Arg1758Ter
ENST00000644379.1:c.1596A>T
ENST00000352993.7:c.1783A>T	ENSP00000312236.5:p.Arg595Ter
ENST00000357654.7:c.5209A>T	ENSP00000350283.3:p.Arg1737Ter
ENST00000461221.5:c.*4992A>T	ENSP00000418548.1:n.*4992A>T
ENST00000468300.5:c.1897A>T	ENSP00000417148.1:p.Arg633Ter
ENST00000471181.6:c.5272A>T	ENSP00000418960.2:p.Arg1758Ter
ENST00000491747.6:c.1897A>T	ENSP00000420705.2:p.Arg633Ter
ENST00000493795.5:c.5068A>T	ENSP00000418775.1:p.Arg1690Ter
ENST00000586385.5:c.139A>T	ENSP00000465818.1:p.Arg47Ter
ENST00000591534.5:c.682A>T	ENSP00000467329.1:p.Arg228Ter
ENST00000591849.5:c.-98-6930A>T	ENSP00000465347.1:n.-98-6930A>T
NM_007294.3:c.5209A>T , LRG_292t1:c.5209A>T	NP_009225.1:p.Arg1737Ter
NM_007297.3:c.5068A>T	NP_009228.2:p.Arg1690Ter
NM_007298.3:c.1897A>T	NP_009229.2:p.Arg633Ter
NM_007299.3:c.1897A>T	NP_009230.2:p.Arg633Ter
NM_007300.3:c.5272A>T	NP_009231.2:p.Arg1758Ter
NR_027676.1:n.5345A>T
NM_007294.4:c.5209A>T MANE Select	NP_009225.1:p.Arg1737Ter
NM_007297.4:c.5068A>T	NP_009228.2:p.Arg1690Ter
NM_007299.4:c.1897A>T	NP_009230.2:p.Arg633Ter
NM_007300.4:c.5272A>T	NP_009231.2:p.Arg1758Ter
NR_027676.2:n.5386A>T