Canonical Allele Identifier: CA003718

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55631
• ClinVar RCV Id: RCV000083223 ; RCV000571563 ; RCV001326885 ; RCV002250547 ; RCV003493430
• dbSNP Id: rs80356996
• MyVariant Identifiers: chr17:g.41197726A>G (hg19) ; chr17:g.43045709A>G (hg38)
• PubMed: PMID:17305420 ; PMID:20516115

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045709A>G , CM000679.2:g.43045709A>G	GRCh38
NC_000017.10:g.41197726A>G , CM000679.1:g.41197726A>G	GRCh37
NC_000017.9:g.38451252A>G	NCBI36
NG_005905.2:g.172275T>C , LRG_292:g.172275T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5558T>C	ENSP00000417241.2:p.Leu1853Pro
ENST00000470026.6:c.5561T>C	ENSP00000419274.2:p.Leu1854Pro
ENST00000473961.6:c.5435T>C	ENSP00000420201.2:p.Leu1812Pro
ENST00000476777.6:c.5555T>C	ENSP00000417554.2:p.Leu1852Pro
ENST00000477152.6:c.5483T>C	ENSP00000419988.2:p.Leu1828Pro
ENST00000478531.6:c.2249T>C	ENSP00000420412.2:p.Leu750Pro
ENST00000489037.2:c.5483T>C	ENSP00000420781.2:p.Leu1828Pro
ENST00000493919.6:c.2111T>C	ENSP00000418819.2:p.Leu704Pro
ENST00000494123.6:c.5561T>C	ENSP00000419103.2:p.Leu1854Pro
ENST00000497488.2:c.4673T>C	ENSP00000418986.2:p.Leu1558Pro
ENST00000618469.2:c.5561T>C	ENSP00000478114.2:p.Leu1854Pro
ENST00000634433.2:c.5438T>C	ENSP00000489431.2:p.Leu1813Pro
ENST00000644379.2:c.5627T>C	ENSP00000496570.2:p.Leu1876Pro
ENST00000644555.2:c.2111T>C	ENSP00000494614.2:p.Leu704Pro
ENST00000652672.2:c.5420T>C	ENSP00000498906.2:p.Leu1807Pro
ENST00000484087.6:c.2123T>C	ENSP00000419481.2:p.Leu708Pro
ENST00000700081.1:n.1444T>C
ENST00000700082.1:n.925T>C
ENST00000357654.9:c.5561T>C MANE Select	ENSP00000350283.3:p.Leu1854Pro
ENST00000471181.7:c.5624T>C	ENSP00000418960.2:p.Leu1875Pro
ENST00000644379.1:c.1948T>C
ENST00000352993.7:c.2135T>C	ENSP00000312236.5:p.Leu712Pro
ENST00000357654.7:c.5561T>C	ENSP00000350283.3:p.Leu1854Pro
ENST00000461221.5:c.*5344T>C	ENSP00000418548.1:n.*5344T>C
ENST00000468300.5:c.*75T>C	ENSP00000417148.1:n.*75T>C
ENST00000471181.6:c.5624T>C	ENSP00000418960.2:p.Leu1875Pro
ENST00000491747.6:c.2249T>C	ENSP00000420705.2:p.Leu750Pro
ENST00000493795.5:c.5420T>C	ENSP00000418775.1:p.Leu1807Pro
ENST00000586385.5:c.491T>C	ENSP00000465818.1:p.Leu164Pro
ENST00000591534.5:c.1034T>C	ENSP00000467329.1:p.Leu345Pro
ENST00000591849.5:c.260T>C	ENSP00000465347.1:p.Leu87Pro
NM_007294.3:c.5561T>C , LRG_292t1:c.5561T>C	NP_009225.1:p.Leu1854Pro
NM_007297.3:c.5420T>C	NP_009228.2:p.Leu1807Pro
NM_007298.3:c.2249T>C	NP_009229.2:p.Leu750Pro
NM_007299.3:c.*75T>C	NP_009230.2:n.*75T>C
NM_007300.3:c.5624T>C	NP_009231.2:p.Leu1875Pro
NR_027676.1:n.5697T>C
NM_007294.4:c.5561T>C MANE Select	NP_009225.1:p.Leu1854Pro
NM_007297.4:c.5420T>C	NP_009228.2:p.Leu1807Pro
NM_007299.4:c.*75T>C	NP_009230.2:n.*75T>C
NM_007300.4:c.5624T>C	NP_009231.2:p.Leu1875Pro
NR_027676.2:n.5738T>C