Canonical Allele Identifier: CA10591323

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867649
• ClinVar RCV Id: RCV001076387 ; RCV002339364
• dbSNP Id: rs2051925024
• MyVariant Identifiers: chr17:g.41215939T>G (hg19) ; chr17:g.43063922T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063922T>G , CM000679.2:g.43063922T>G	GRCh38
NC_000017.10:g.41215939T>G , CM000679.1:g.41215939T>G	GRCh37
NC_000017.9:g.38469465T>G	NCBI36
NG_005905.2:g.154062A>C , LRG_292:g.154062A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5101A>C	ENSP00000417241.2:p.Lys1701Gln
ENST00000470026.6:c.5104A>C	ENSP00000419274.2:p.Lys1702Gln
ENST00000473961.6:c.4978A>C	ENSP00000420201.2:p.Lys1660Gln
ENST00000476777.6:c.5098A>C	ENSP00000417554.2:p.Lys1700Gln
ENST00000477152.6:c.5026A>C	ENSP00000419988.2:p.Lys1676Gln
ENST00000478531.6:c.1792A>C	ENSP00000420412.2:p.Lys598Gln
ENST00000489037.2:c.5026A>C	ENSP00000420781.2:p.Lys1676Gln
ENST00000493919.6:c.1654A>C	ENSP00000418819.2:p.Lys552Gln
ENST00000494123.6:c.5104A>C	ENSP00000419103.2:p.Lys1702Gln
ENST00000497488.2:c.4216A>C	ENSP00000418986.2:p.Lys1406Gln
ENST00000618469.2:c.5104A>C	ENSP00000478114.2:p.Lys1702Gln
ENST00000634433.2:c.4981A>C	ENSP00000489431.2:p.Lys1661Gln
ENST00000644379.2:c.5170A>C	ENSP00000496570.2:p.Lys1724Gln
ENST00000644555.2:c.1654A>C	ENSP00000494614.2:p.Lys552Gln
ENST00000652672.2:c.4963A>C	ENSP00000498906.2:p.Lys1655Gln
ENST00000484087.6:c.1666A>C	ENSP00000419481.2:p.Lys556Gln
ENST00000357654.9:c.5104A>C MANE Select	ENSP00000350283.3:p.Lys1702Gln
ENST00000471181.7:c.5167A>C	ENSP00000418960.2:p.Lys1723Gln
ENST00000644379.1:c.1491A>C
ENST00000352993.7:c.1678A>C	ENSP00000312236.5:p.Lys560Gln
ENST00000357654.7:c.5104A>C	ENSP00000350283.3:p.Lys1702Gln
ENST00000461221.5:c.*4887A>C	ENSP00000418548.1:n.*4887A>C
ENST00000468300.5:c.1792A>C	ENSP00000417148.1:p.Lys598Gln
ENST00000471181.6:c.5167A>C	ENSP00000418960.2:p.Lys1723Gln
ENST00000478531.5:c.1792A>C	ENSP00000420412.1:p.Lys598Gln
ENST00000484087.5:c.1417A>C	ENSP00000419481.1:p.Lys473Gln
ENST00000491747.6:c.1792A>C	ENSP00000420705.2:p.Lys598Gln
ENST00000493795.5:c.4963A>C	ENSP00000418775.1:p.Lys1655Gln
ENST00000493919.5:c.1654A>C	ENSP00000418819.1:p.Lys552Gln
ENST00000586385.5:c.34A>C	ENSP00000465818.1:p.Lys12Gln
ENST00000591534.5:c.577A>C	ENSP00000467329.1:p.Lys193Gln
ENST00000591849.5:c.-98-13732A>C	ENSP00000465347.1:n.-98-13732A>C
NM_007294.3:c.5104A>C , LRG_292t1:c.5104A>C	NP_009225.1:p.Lys1702Gln
NM_007297.3:c.4963A>C	NP_009228.2:p.Lys1655Gln
NM_007298.3:c.1792A>C	NP_009229.2:p.Lys598Gln
NM_007299.3:c.1792A>C	NP_009230.2:p.Lys598Gln
NM_007300.3:c.5167A>C	NP_009231.2:p.Lys1723Gln
NR_027676.1:n.5240A>C
NM_007294.4:c.5104A>C MANE Select	NP_009225.1:p.Lys1702Gln
NM_007297.4:c.4963A>C	NP_009228.2:p.Lys1655Gln
NM_007299.4:c.1792A>C	NP_009230.2:p.Lys598Gln
NM_007300.4:c.5167A>C	NP_009231.2:p.Lys1723Gln
NR_027676.2:n.5281A>C