Canonical Allele Identifier: CA003181

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55369
• ClinVar RCV Id: RCV000112480 ; RCV000503511 ; RCV000509930 ; RCV000587374 ; RCV000855576
• dbSNP Id: rs80357061
• gnomAD v4: 17-43067616-A-G
• MyVariant Identifiers: chr17:g.41219633A>G (hg19) ; chr17:g.43067616A>G (hg38)
• PubMed: PMID:15172985 ; PMID:16267036 ; PMID:19706752 ; PMID:20516115

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067616A>G , CM000679.2:g.43067616A>G	GRCh38
NC_000017.10:g.41219633A>G , CM000679.1:g.41219633A>G	GRCh37
NC_000017.9:g.38473159A>G	NCBI36
NG_005905.2:g.150368T>C , LRG_292:g.150368T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5063T>C	ENSP00000417241.2:p.Met1688Thr
ENST00000470026.6:c.5066T>C	ENSP00000419274.2:p.Met1689Thr
ENST00000473961.6:c.4940T>C	ENSP00000420201.2:p.Met1647Thr
ENST00000476777.6:c.5060T>C	ENSP00000417554.2:p.Met1687Thr
ENST00000477152.6:c.4988T>C	ENSP00000419988.2:p.Met1663Thr
ENST00000478531.6:c.1754T>C	ENSP00000420412.2:p.Met585Thr
ENST00000489037.2:c.4988T>C	ENSP00000420781.2:p.Met1663Thr
ENST00000493919.6:c.1616T>C	ENSP00000418819.2:p.Met539Thr
ENST00000494123.6:c.5066T>C	ENSP00000419103.2:p.Met1689Thr
ENST00000497488.2:c.4178T>C	ENSP00000418986.2:p.Met1393Thr
ENST00000618469.2:c.5066T>C	ENSP00000478114.2:p.Met1689Thr
ENST00000634433.2:c.4943T>C	ENSP00000489431.2:p.Met1648Thr
ENST00000644379.2:c.5132T>C	ENSP00000496570.2:p.Met1711Thr
ENST00000644555.2:c.1616T>C	ENSP00000494614.2:p.Met539Thr
ENST00000652672.2:c.4925T>C	ENSP00000498906.2:p.Met1642Thr
ENST00000484087.6:c.1628T>C	ENSP00000419481.2:p.Met543Thr
ENST00000357654.9:c.5066T>C MANE Select	ENSP00000350283.3:p.Met1689Thr
ENST00000471181.7:c.5129T>C	ENSP00000418960.2:p.Met1710Thr
ENST00000644379.1:c.1453T>C
ENST00000352993.7:c.1640T>C	ENSP00000312236.5:p.Met547Thr
ENST00000357654.7:c.5066T>C	ENSP00000350283.3:p.Met1689Thr
ENST00000461221.5:c.*4849T>C	ENSP00000418548.1:n.*4849T>C
ENST00000468300.5:c.1754T>C	ENSP00000417148.1:p.Met585Thr
ENST00000471181.6:c.5129T>C	ENSP00000418960.2:p.Met1710Thr
ENST00000472490.1:n.219T>C
ENST00000478531.5:c.1754T>C	ENSP00000420412.1:p.Met585Thr
ENST00000484087.5:c.1379T>C	ENSP00000419481.1:p.Met460Thr
ENST00000491747.6:c.1754T>C	ENSP00000420705.2:p.Met585Thr
ENST00000493795.5:c.4925T>C	ENSP00000418775.1:p.Met1642Thr
ENST00000493919.5:c.1616T>C	ENSP00000418819.1:p.Met539Thr
ENST00000586385.5:c.5-3665T>C	ENSP00000465818.1:n.5-3665T>C
ENST00000591534.5:c.539T>C	ENSP00000467329.1:p.Met180Thr
ENST00000591849.5:c.-98-17426T>C	ENSP00000465347.1:n.-98-17426T>C
NM_007294.3:c.5066T>C , LRG_292t1:c.5066T>C	NP_009225.1:p.Met1689Thr
NM_007297.3:c.4925T>C	NP_009228.2:p.Met1642Thr
NM_007298.3:c.1754T>C	NP_009229.2:p.Met585Thr
NM_007299.3:c.1754T>C	NP_009230.2:p.Met585Thr
NM_007300.3:c.5129T>C	NP_009231.2:p.Met1710Thr
NR_027676.1:n.5202T>C
NM_007294.4:c.5066T>C MANE Select	NP_009225.1:p.Met1689Thr
NM_007297.4:c.4925T>C	NP_009228.2:p.Met1642Thr
NM_007299.4:c.1754T>C	NP_009230.2:p.Met585Thr
NM_007300.4:c.5129T>C	NP_009231.2:p.Met1710Thr
NR_027676.2:n.5243T>C