Canonical Allele Identifier: CA003492

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55531
• ClinVar RCV Id: RCV000577611 ; RCV000985438 ; RCV001326887
• dbSNP Id: rs80357112
• MyVariant Identifiers: chr17:g.41203080C>G (hg19) ; chr17:g.43051063C>G (hg38)
• PubMed: PMID:9440731

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051063C>G , CM000679.2:g.43051063C>G	GRCh38
NC_000017.10:g.41203080C>G , CM000679.1:g.41203080C>G	GRCh37
NC_000017.9:g.38456606C>G	NCBI36
NG_005905.2:g.166921G>C , LRG_292:g.166921G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5329G>C	ENSP00000417241.2:p.Asp1777His
ENST00000470026.6:c.5332G>C	ENSP00000419274.2:p.Asp1778His
ENST00000473961.6:c.5206G>C	ENSP00000420201.2:p.Asp1736His
ENST00000476777.6:c.5326G>C	ENSP00000417554.2:p.Asp1776His
ENST00000477152.6:c.5254G>C	ENSP00000419988.2:p.Asp1752His
ENST00000478531.6:c.2020G>C	ENSP00000420412.2:p.Asp674His
ENST00000489037.2:c.5254G>C	ENSP00000420781.2:p.Asp1752His
ENST00000493919.6:c.1882G>C	ENSP00000418819.2:p.Asp628His
ENST00000494123.6:c.5332G>C	ENSP00000419103.2:p.Asp1778His
ENST00000497488.2:c.4444G>C	ENSP00000418986.2:p.Asp1482His
ENST00000618469.2:c.5332G>C	ENSP00000478114.2:p.Asp1778His
ENST00000634433.2:c.5209G>C	ENSP00000489431.2:p.Asp1737His
ENST00000644379.2:c.5398G>C	ENSP00000496570.2:p.Asp1800His
ENST00000644555.2:c.1882G>C	ENSP00000494614.2:p.Asp628His
ENST00000652672.2:c.5191G>C	ENSP00000498906.2:p.Asp1731His
ENST00000484087.6:c.1894G>C	ENSP00000419481.2:p.Asp632His
ENST00000357654.9:c.5332G>C MANE Select	ENSP00000350283.3:p.Asp1778His
ENST00000471181.7:c.5395G>C	ENSP00000418960.2:p.Asp1799His
ENST00000644379.1:c.1719G>C
ENST00000352993.7:c.1906G>C	ENSP00000312236.5:p.Asp636His
ENST00000357654.7:c.5332G>C	ENSP00000350283.3:p.Asp1778His
ENST00000461221.5:c.*5115G>C	ENSP00000418548.1:n.*5115G>C
ENST00000468300.5:c.2020G>C	ENSP00000417148.1:p.Gly674Arg
ENST00000471181.6:c.5395G>C	ENSP00000418960.2:p.Asp1799His
ENST00000491747.6:c.2020G>C	ENSP00000420705.2:p.Asp674His
ENST00000493795.5:c.5191G>C	ENSP00000418775.1:p.Asp1731His
ENST00000586385.5:c.262G>C	ENSP00000465818.1:p.Asp88His
ENST00000591534.5:c.805G>C	ENSP00000467329.1:p.Asp269His
ENST00000591849.5:c.-98-873G>C	ENSP00000465347.1:n.-98-873G>C
NM_007294.3:c.5332G>C , LRG_292t1:c.5332G>C	NP_009225.1:p.Asp1778His
NM_007297.3:c.5191G>C	NP_009228.2:p.Asp1731His
NM_007298.3:c.2020G>C	NP_009229.2:p.Asp674His
NM_007299.3:c.2020G>C	NP_009230.2:p.Gly674Arg
NM_007300.3:c.5395G>C	NP_009231.2:p.Asp1799His
NR_027676.1:n.5468G>C
NM_007294.4:c.5332G>C MANE Select	NP_009225.1:p.Asp1778His
NM_007297.4:c.5191G>C	NP_009228.2:p.Asp1731His
NM_007299.4:c.2020G>C	NP_009230.2:p.Gly674Arg
NM_007300.4:c.5395G>C	NP_009231.2:p.Asp1799His
NR_027676.2:n.5509G>C