Canonical Allele Identifier: CA003512

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55544
• ClinVar RCV Id: RCV000112626 ; RCV000496911 ; RCV000575788 ; RCV001795043
• dbSNP Id: rs80357219
• gnomAD v4: 17-43049182-C-T
• MyVariant Identifiers: chr17:g.41201199C>T (hg19) ; chr17:g.43049182C>T (hg38)
• PubMed: PMID:9362443 ; PMID:11773283 ; PMID:12960223 ; PMID:16234499 ; PMID:25948282

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049182C>T , CM000679.2:g.43049182C>T	GRCh38
NC_000017.10:g.41201199C>T , CM000679.1:g.41201199C>T	GRCh37
NC_000017.9:g.38454725C>T	NCBI36
NG_005905.2:g.168802G>A , LRG_292:g.168802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5342G>A	ENSP00000417241.2:p.Trp1781Ter
ENST00000470026.6:c.5345G>A	ENSP00000419274.2:p.Trp1782Ter
ENST00000473961.6:c.5219G>A	ENSP00000420201.2:p.Trp1740Ter
ENST00000476777.6:c.5339G>A	ENSP00000417554.2:p.Trp1780Ter
ENST00000477152.6:c.5267G>A	ENSP00000419988.2:p.Trp1756Ter
ENST00000478531.6:c.2033G>A	ENSP00000420412.2:p.Trp678Ter
ENST00000489037.2:c.5267G>A	ENSP00000420781.2:p.Trp1756Ter
ENST00000493919.6:c.1895G>A	ENSP00000418819.2:p.Trp632Ter
ENST00000494123.6:c.5345G>A	ENSP00000419103.2:p.Trp1782Ter
ENST00000497488.2:c.4457G>A	ENSP00000418986.2:p.Trp1486Ter
ENST00000618469.2:c.5345G>A	ENSP00000478114.2:p.Trp1782Ter
ENST00000634433.2:c.5222G>A	ENSP00000489431.2:p.Trp1741Ter
ENST00000644379.2:c.5411G>A	ENSP00000496570.2:p.Trp1804Ter
ENST00000644555.2:c.1895G>A	ENSP00000494614.2:p.Trp632Ter
ENST00000652672.2:c.5204G>A	ENSP00000498906.2:p.Trp1735Ter
ENST00000484087.6:c.1907G>A	ENSP00000419481.2:p.Trp636Ter
ENST00000700081.1:n.1228G>A
ENST00000357654.9:c.5345G>A MANE Select	ENSP00000350283.3:p.Trp1782Ter
ENST00000471181.7:c.5408G>A	ENSP00000418960.2:p.Trp1803Ter
ENST00000644379.1:c.1732G>A
ENST00000352993.7:c.1919G>A	ENSP00000312236.5:p.Trp640Ter
ENST00000357654.7:c.5345G>A	ENSP00000350283.3:p.Trp1782Ter
ENST00000461221.5:c.*5128G>A	ENSP00000418548.1:n.*5128G>A
ENST00000468300.5:c.2021-1479G>A	ENSP00000417148.1:n.2021-1479G>A
ENST00000471181.6:c.5408G>A	ENSP00000418960.2:p.Trp1803Ter
ENST00000491747.6:c.2033G>A	ENSP00000420705.2:p.Trp678Ter
ENST00000493795.5:c.5204G>A	ENSP00000418775.1:p.Trp1735Ter
ENST00000586385.5:c.275G>A	ENSP00000465818.1:p.Trp92Ter
ENST00000591534.5:c.818G>A	ENSP00000467329.1:p.Trp273Ter
ENST00000591849.5:c.44G>A	ENSP00000465347.1:p.Trp15Ter
NM_007294.3:c.5345G>A , LRG_292t1:c.5345G>A	NP_009225.1:p.Trp1782Ter
NM_007297.3:c.5204G>A	NP_009228.2:p.Trp1735Ter
NM_007298.3:c.2033G>A	NP_009229.2:p.Trp678Ter
NM_007299.3:c.2021-1479G>A	NP_009230.2:n.2021-1479G>A
NM_007300.3:c.5408G>A	NP_009231.2:p.Trp1803Ter
NR_027676.1:n.5481G>A
NM_007294.4:c.5345G>A MANE Select	NP_009225.1:p.Trp1782Ter
NM_007297.4:c.5204G>A	NP_009228.2:p.Trp1735Ter
NM_007299.4:c.2021-1479G>A	NP_009230.2:n.2021-1479G>A
NM_007300.4:c.5408G>A	NP_009231.2:p.Trp1803Ter
NR_027676.2:n.5522G>A