Canonical Allele Identifier: CA10589661

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266478
• ClinVar RCV Id: RCV000256519 ; RCV000472996 ; RCV001640594
• dbSNP Id: rs747539984
• MyVariant Identifiers: chr17:g.41226520G>T (hg19) ; chr17:g.43074503G>T (hg38)
• PubMed: PMID:25948282

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074503G>T , CM000679.2:g.43074503G>T	GRCh38
NC_000017.10:g.41226520G>T , CM000679.1:g.41226520G>T	GRCh37
NC_000017.9:g.38480046G>T	NCBI36
NG_005905.2:g.143481C>A , LRG_292:g.143481C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4500C>A	ENSP00000417241.2:p.Cys1500Ter
ENST00000470026.6:c.4503C>A	ENSP00000419274.2:p.Cys1501Ter
ENST00000473961.6:c.4377C>A	ENSP00000420201.2:p.Cys1459Ter
ENST00000476777.6:c.4497C>A	ENSP00000417554.2:p.Cys1499Ter
ENST00000477152.6:c.4425C>A	ENSP00000419988.2:p.Cys1475Ter
ENST00000478531.6:c.1191C>A	ENSP00000420412.2:p.Cys397Ter
ENST00000489037.2:c.4425C>A	ENSP00000420781.2:p.Cys1475Ter
ENST00000493919.6:c.1053C>A	ENSP00000418819.2:p.Cys351Ter
ENST00000494123.6:c.4503C>A	ENSP00000419103.2:p.Cys1501Ter
ENST00000497488.2:c.3615C>A	ENSP00000418986.2:p.Cys1205Ter
ENST00000618469.2:c.4503C>A	ENSP00000478114.2:p.Cys1501Ter
ENST00000634433.2:c.4380C>A	ENSP00000489431.2:p.Cys1460Ter
ENST00000644379.2:c.4569C>A	ENSP00000496570.2:p.Cys1523Ter
ENST00000644555.2:c.1053C>A	ENSP00000494614.2:p.Cys351Ter
ENST00000652672.2:c.4362C>A	ENSP00000498906.2:p.Cys1454Ter
ENST00000484087.6:c.1065C>A	ENSP00000419481.2:p.Cys355Ter
ENST00000700182.1:c.1110C>A	ENSP00000514849.1:p.Cys370Ter
ENST00000357654.9:c.4503C>A MANE Select	ENSP00000350283.3:p.Cys1501Ter
ENST00000471181.7:c.4566C>A	ENSP00000418960.2:p.Cys1522Ter
ENST00000644379.1:c.890C>A
ENST00000352993.7:c.1077C>A	ENSP00000312236.5:p.Cys359Ter
ENST00000357654.7:c.4503C>A	ENSP00000350283.3:p.Cys1501Ter
ENST00000461221.5:c.*4286C>A	ENSP00000418548.1:n.*4286C>A
ENST00000468300.5:c.1191C>A	ENSP00000417148.1:p.Cys397Ter
ENST00000471181.6:c.4566C>A	ENSP00000418960.2:p.Cys1522Ter
ENST00000478531.5:c.1191C>A	ENSP00000420412.1:p.Cys397Ter
ENST00000484087.5:c.816C>A	ENSP00000419481.1:p.Cys272Ter
ENST00000491747.6:c.1191C>A	ENSP00000420705.2:p.Cys397Ter
ENST00000493795.5:c.4362C>A	ENSP00000418775.1:p.Cys1454Ter
ENST00000493919.5:c.1053C>A	ENSP00000418819.1:p.Cys351Ter
ENST00000586385.5:c.5-10552C>A	ENSP00000465818.1:n.5-10552C>A
ENST00000591534.5:c.-25C>A	ENSP00000467329.1:n.-25C>A
ENST00000591849.5:c.-98-24313C>A	ENSP00000465347.1:n.-98-24313C>A
NM_007294.3:c.4503C>A , LRG_292t1:c.4503C>A	NP_009225.1:p.Cys1501Ter
NM_007297.3:c.4362C>A	NP_009228.2:p.Cys1454Ter
NM_007298.3:c.1191C>A	NP_009229.2:p.Cys397Ter
NM_007299.3:c.1191C>A	NP_009230.2:p.Cys397Ter
NM_007300.3:c.4566C>A	NP_009231.2:p.Cys1522Ter
NR_027676.1:n.4639C>A
NM_007294.4:c.4503C>A MANE Select	NP_009225.1:p.Cys1501Ter
NM_007297.4:c.4362C>A	NP_009228.2:p.Cys1454Ter
NM_007299.4:c.1191C>A	NP_009230.2:p.Cys397Ter
NM_007300.4:c.4566C>A	NP_009231.2:p.Cys1522Ter
NR_027676.2:n.4680C>A