Canonical Allele Identifier: CA003449

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55510
• ClinVar RCV Id: RCV000112604 ; RCV000509995 ; RCV000588744 ; RCV001528204
• dbSNP Id: rs80357281
• MyVariant Identifiers: chr17:g.41203121A>G (hg19) ; chr17:g.43051104A>G (hg38)
• PubMed: PMID:15172985 ; PMID:15184261 ; PMID:16267036 ; PMID:17305420 ; PMID:17308087 ; PMID:17924331 ; PMID:18824701 ; PMID:20378548 ; PMID:20516115 ; PMID:21990134 ; PMID:23867111 ; PMID:27272900

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051104A>G , CM000679.2:g.43051104A>G	GRCh38
NC_000017.10:g.41203121A>G , CM000679.1:g.41203121A>G	GRCh37
NC_000017.9:g.38456647A>G	NCBI36
NG_005905.2:g.166880T>C , LRG_292:g.166880T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5288T>C	ENSP00000417241.2:p.Leu1763Pro
ENST00000470026.6:c.5291T>C	ENSP00000419274.2:p.Leu1764Pro
ENST00000473961.6:c.5165T>C	ENSP00000420201.2:p.Leu1722Pro
ENST00000476777.6:c.5285T>C	ENSP00000417554.2:p.Leu1762Pro
ENST00000477152.6:c.5213T>C	ENSP00000419988.2:p.Leu1738Pro
ENST00000478531.6:c.1979T>C	ENSP00000420412.2:p.Leu660Pro
ENST00000489037.2:c.5213T>C	ENSP00000420781.2:p.Leu1738Pro
ENST00000493919.6:c.1841T>C	ENSP00000418819.2:p.Leu614Pro
ENST00000494123.6:c.5291T>C	ENSP00000419103.2:p.Leu1764Pro
ENST00000497488.2:c.4403T>C	ENSP00000418986.2:p.Leu1468Pro
ENST00000618469.2:c.5291T>C	ENSP00000478114.2:p.Leu1764Pro
ENST00000634433.2:c.5168T>C	ENSP00000489431.2:p.Leu1723Pro
ENST00000644379.2:c.5357T>C	ENSP00000496570.2:p.Leu1786Pro
ENST00000644555.2:c.1841T>C	ENSP00000494614.2:p.Leu614Pro
ENST00000652672.2:c.5150T>C	ENSP00000498906.2:p.Leu1717Pro
ENST00000484087.6:c.1853T>C	ENSP00000419481.2:p.Leu618Pro
ENST00000357654.9:c.5291T>C MANE Select	ENSP00000350283.3:p.Leu1764Pro
ENST00000471181.7:c.5354T>C	ENSP00000418960.2:p.Leu1785Pro
ENST00000644379.1:c.1678T>C
ENST00000352993.7:c.1865T>C	ENSP00000312236.5:p.Leu622Pro
ENST00000357654.7:c.5291T>C	ENSP00000350283.3:p.Leu1764Pro
ENST00000461221.5:c.*5074T>C	ENSP00000418548.1:n.*5074T>C
ENST00000468300.5:c.1979T>C	ENSP00000417148.1:p.Leu660Pro
ENST00000471181.6:c.5354T>C	ENSP00000418960.2:p.Leu1785Pro
ENST00000491747.6:c.1979T>C	ENSP00000420705.2:p.Leu660Pro
ENST00000493795.5:c.5150T>C	ENSP00000418775.1:p.Leu1717Pro
ENST00000586385.5:c.221T>C	ENSP00000465818.1:p.Leu74Pro
ENST00000591534.5:c.764T>C	ENSP00000467329.1:p.Leu255Pro
ENST00000591849.5:c.-98-914T>C	ENSP00000465347.1:n.-98-914T>C
NM_007294.3:c.5291T>C , LRG_292t1:c.5291T>C	NP_009225.1:p.Leu1764Pro
NM_007297.3:c.5150T>C	NP_009228.2:p.Leu1717Pro
NM_007298.3:c.1979T>C	NP_009229.2:p.Leu660Pro
NM_007299.3:c.1979T>C	NP_009230.2:p.Leu660Pro
NM_007300.3:c.5354T>C	NP_009231.2:p.Leu1785Pro
NR_027676.1:n.5427T>C
NM_007294.4:c.5291T>C MANE Select	NP_009225.1:p.Leu1764Pro
NM_007297.4:c.5150T>C	NP_009228.2:p.Leu1717Pro
NM_007299.4:c.1979T>C	NP_009230.2:p.Leu660Pro
NM_007300.4:c.5354T>C	NP_009231.2:p.Leu1785Pro
NR_027676.2:n.5468T>C