Canonical Allele Identifier: CA003327

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37645
• ClinVar RCV Id: RCV000031226 ; RCV000048844 ; RCV000131827 ; RCV000237069
• dbSNP Id: rs80357347
• gnomAD v4: 17-43063347-T-A
• MyVariant Identifiers: chr17:g.41215364T>A (hg19) ; chr17:g.43063347T>A (hg38)
• PubMed: PMID:7493024 ; PMID:10699917 ; PMID:11802209 ; PMID:16287141

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063347T>A , CM000679.2:g.43063347T>A	GRCh38
NC_000017.10:g.41215364T>A , CM000679.1:g.41215364T>A	GRCh37
NC_000017.9:g.38468890T>A	NCBI36
NG_005905.2:g.154637A>T , LRG_292:g.154637A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5176A>T	ENSP00000417241.2:p.Lys1726Ter
ENST00000470026.6:c.5179A>T	ENSP00000419274.2:p.Lys1727Ter
ENST00000473961.6:c.5053A>T	ENSP00000420201.2:p.Lys1685Ter
ENST00000476777.6:c.5173A>T	ENSP00000417554.2:p.Lys1725Ter
ENST00000477152.6:c.5101A>T	ENSP00000419988.2:p.Lys1701Ter
ENST00000478531.6:c.1867A>T	ENSP00000420412.2:p.Lys623Ter
ENST00000489037.2:c.5101A>T	ENSP00000420781.2:p.Lys1701Ter
ENST00000493919.6:c.1729A>T	ENSP00000418819.2:p.Lys577Ter
ENST00000494123.6:c.5179A>T	ENSP00000419103.2:p.Lys1727Ter
ENST00000497488.2:c.4291A>T	ENSP00000418986.2:p.Lys1431Ter
ENST00000618469.2:c.5179A>T	ENSP00000478114.2:p.Lys1727Ter
ENST00000634433.2:c.5056A>T	ENSP00000489431.2:p.Lys1686Ter
ENST00000644379.2:c.5245A>T	ENSP00000496570.2:p.Lys1749Ter
ENST00000644555.2:c.1729A>T	ENSP00000494614.2:p.Lys577Ter
ENST00000652672.2:c.5038A>T	ENSP00000498906.2:p.Lys1680Ter
ENST00000484087.6:c.1741A>T	ENSP00000419481.2:p.Lys581Ter
ENST00000357654.9:c.5179A>T MANE Select	ENSP00000350283.3:p.Lys1727Ter
ENST00000471181.7:c.5242A>T	ENSP00000418960.2:p.Lys1748Ter
ENST00000644379.1:c.1566A>T
ENST00000352993.7:c.1753A>T	ENSP00000312236.5:p.Lys585Ter
ENST00000357654.7:c.5179A>T	ENSP00000350283.3:p.Lys1727Ter
ENST00000461221.5:c.*4962A>T	ENSP00000418548.1:n.*4962A>T
ENST00000468300.5:c.1867A>T	ENSP00000417148.1:p.Lys623Ter
ENST00000471181.6:c.5242A>T	ENSP00000418960.2:p.Lys1748Ter
ENST00000478531.5:c.1867A>T	ENSP00000420412.1:p.Lys623Ter
ENST00000484087.5:c.1492A>T	ENSP00000419481.1:p.Lys498Ter
ENST00000491747.6:c.1867A>T	ENSP00000420705.2:p.Lys623Ter
ENST00000493795.5:c.5038A>T	ENSP00000418775.1:p.Lys1680Ter
ENST00000586385.5:c.109A>T	ENSP00000465818.1:p.Lys37Ter
ENST00000591534.5:c.652A>T	ENSP00000467329.1:p.Lys218Ter
ENST00000591849.5:c.-98-13157A>T	ENSP00000465347.1:n.-98-13157A>T
NM_007294.3:c.5179A>T , LRG_292t1:c.5179A>T	NP_009225.1:p.Lys1727Ter
NM_007297.3:c.5038A>T	NP_009228.2:p.Lys1680Ter
NM_007298.3:c.1867A>T	NP_009229.2:p.Lys623Ter
NM_007299.3:c.1867A>T	NP_009230.2:p.Lys623Ter
NM_007300.3:c.5242A>T	NP_009231.2:p.Lys1748Ter
NR_027676.1:n.5315A>T
NM_007294.4:c.5179A>T MANE Select	NP_009225.1:p.Lys1727Ter
NM_007297.4:c.5038A>T	NP_009228.2:p.Lys1680Ter
NM_007299.4:c.1867A>T	NP_009230.2:p.Lys623Ter
NM_007300.4:c.5242A>T	NP_009231.2:p.Lys1748Ter
NR_027676.2:n.5356A>T