Canonical Allele Identifier: CA003697

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55614
• ClinVar RCV Id: RCV000112695 ; RCV000570342 ; RCV000781015
• dbSNP Id: rs80357019
• gnomAD v4: 17-43045743-C-G
• MyVariant Identifiers: chr17:g.41197760C>G (hg19) ; chr17:g.43045743C>G (hg38)
• PubMed: PMID:12496477 ; PMID:15133502 ; PMID:15172985 ; PMID:15235020 ; PMID:17305420 ; PMID:20378548 ; PMID:20516115

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045743C>G , CM000679.2:g.43045743C>G	GRCh38
NC_000017.10:g.41197760C>G , CM000679.1:g.41197760C>G	GRCh37
NC_000017.9:g.38451286C>G	NCBI36
NG_005905.2:g.172241G>C , LRG_292:g.172241G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5524G>C	ENSP00000417241.2:p.Ala1842Pro
ENST00000470026.6:c.5527G>C	ENSP00000419274.2:p.Ala1843Pro
ENST00000473961.6:c.5401G>C	ENSP00000420201.2:p.Ala1801Pro
ENST00000476777.6:c.5521G>C	ENSP00000417554.2:p.Ala1841Pro
ENST00000477152.6:c.5449G>C	ENSP00000419988.2:p.Ala1817Pro
ENST00000478531.6:c.2215G>C	ENSP00000420412.2:p.Ala739Pro
ENST00000489037.2:c.5449G>C	ENSP00000420781.2:p.Ala1817Pro
ENST00000493919.6:c.2077G>C	ENSP00000418819.2:p.Ala693Pro
ENST00000494123.6:c.5527G>C	ENSP00000419103.2:p.Ala1843Pro
ENST00000497488.2:c.4639G>C	ENSP00000418986.2:p.Ala1547Pro
ENST00000618469.2:c.5527G>C	ENSP00000478114.2:p.Ala1843Pro
ENST00000634433.2:c.5404G>C	ENSP00000489431.2:p.Ala1802Pro
ENST00000644379.2:c.5593G>C	ENSP00000496570.2:p.Ala1865Pro
ENST00000644555.2:c.2077G>C	ENSP00000494614.2:p.Ala693Pro
ENST00000652672.2:c.5386G>C	ENSP00000498906.2:p.Ala1796Pro
ENST00000484087.6:c.2089G>C	ENSP00000419481.2:p.Ala697Pro
ENST00000700081.1:n.1410G>C
ENST00000700082.1:n.891G>C
ENST00000357654.9:c.5527G>C MANE Select	ENSP00000350283.3:p.Ala1843Pro
ENST00000471181.7:c.5590G>C	ENSP00000418960.2:p.Ala1864Pro
ENST00000644379.1:c.1914G>C
ENST00000352993.7:c.2101G>C	ENSP00000312236.5:p.Ala701Pro
ENST00000357654.7:c.5527G>C	ENSP00000350283.3:p.Ala1843Pro
ENST00000461221.5:c.*5310G>C	ENSP00000418548.1:n.*5310G>C
ENST00000468300.5:c.*41G>C	ENSP00000417148.1:n.*41G>C
ENST00000471181.6:c.5590G>C	ENSP00000418960.2:p.Ala1864Pro
ENST00000491747.6:c.2215G>C	ENSP00000420705.2:p.Ala739Pro
ENST00000493795.5:c.5386G>C	ENSP00000418775.1:p.Ala1796Pro
ENST00000586385.5:c.457G>C	ENSP00000465818.1:p.Ala153Pro
ENST00000591534.5:c.1000G>C	ENSP00000467329.1:p.Ala334Pro
ENST00000591849.5:c.226G>C	ENSP00000465347.1:p.Ala76Pro
NM_007294.3:c.5527G>C , LRG_292t1:c.5527G>C	NP_009225.1:p.Ala1843Pro
NM_007297.3:c.5386G>C	NP_009228.2:p.Ala1796Pro
NM_007298.3:c.2215G>C	NP_009229.2:p.Ala739Pro
NM_007299.3:c.*41G>C	NP_009230.2:n.*41G>C
NM_007300.3:c.5590G>C	NP_009231.2:p.Ala1864Pro
NR_027676.1:n.5663G>C
NM_007294.4:c.5527G>C MANE Select	NP_009225.1:p.Ala1843Pro
NM_007297.4:c.5386G>C	NP_009228.2:p.Ala1796Pro
NM_007299.4:c.*41G>C	NP_009230.2:n.*41G>C
NM_007300.4:c.5590G>C	NP_009231.2:p.Ala1864Pro
NR_027676.2:n.5704G>C