Canonical Allele Identifier: CA10590992

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 267593
• ClinVar RCV Id: RCV000258354 ; RCV000496299 ; RCV001023845
• dbSNP Id: rs397509253
• MyVariant Identifiers: chr17:g.41203136T>C (hg19) ; chr17:g.43051119T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051119T>C , CM000679.2:g.43051119T>C	GRCh38
NC_000017.10:g.41203136T>C , CM000679.1:g.41203136T>C	GRCh37
NC_000017.9:g.38456662T>C	NCBI36
NG_005905.2:g.166865A>G , LRG_292:g.166865A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5275-2A>G	ENSP00000417241.2:n.5275-2A>G
ENST00000470026.6:c.5278-2A>G	ENSP00000419274.2:n.5278-2A>G
ENST00000473961.6:c.5152-2A>G	ENSP00000420201.2:n.5152-2A>G
ENST00000476777.6:c.5272-2A>G	ENSP00000417554.2:n.5272-2A>G
ENST00000477152.6:c.5200-2A>G	ENSP00000419988.2:n.5200-2A>G
ENST00000478531.6:c.1966-2A>G	ENSP00000420412.2:n.1966-2A>G
ENST00000489037.2:c.5200-2A>G	ENSP00000420781.2:n.5200-2A>G
ENST00000493919.6:c.1828-2A>G	ENSP00000418819.2:n.1828-2A>G
ENST00000494123.6:c.5278-2A>G	ENSP00000419103.2:n.5278-2A>G
ENST00000497488.2:c.4390-2A>G	ENSP00000418986.2:n.4390-2A>G
ENST00000618469.2:c.5278-2A>G	ENSP00000478114.2:n.5278-2A>G
ENST00000634433.2:c.5155-2A>G	ENSP00000489431.2:n.5155-2A>G
ENST00000644379.2:c.5344-2A>G	ENSP00000496570.2:n.5344-2A>G
ENST00000644555.2:c.1828-2A>G	ENSP00000494614.2:n.1828-2A>G
ENST00000652672.2:c.5137-2A>G	ENSP00000498906.2:n.5137-2A>G
ENST00000484087.6:c.1840-2A>G	ENSP00000419481.2:n.1840-2A>G
ENST00000357654.9:c.5278-2A>G MANE Select	ENSP00000350283.3:n.5278-2A>G
ENST00000471181.7:c.5341-2A>G	ENSP00000418960.2:n.5341-2A>G
ENST00000644379.1:c.1665-2A>G
ENST00000352993.7:c.1852-2A>G	ENSP00000312236.5:n.1852-2A>G
ENST00000357654.7:c.5278-2A>G	ENSP00000350283.3:n.5278-2A>G
ENST00000461221.5:c.*5061-2A>G	ENSP00000418548.1:n.*5061-2A>G
ENST00000468300.5:c.1966-2A>G	ENSP00000417148.1:n.1966-2A>G
ENST00000471181.6:c.5341-2A>G	ENSP00000418960.2:n.5341-2A>G
ENST00000491747.6:c.1966-2A>G	ENSP00000420705.2:n.1966-2A>G
ENST00000493795.5:c.5137-2A>G	ENSP00000418775.1:n.5137-2A>G
ENST00000586385.5:c.208-2A>G	ENSP00000465818.1:n.208-2A>G
ENST00000591534.5:c.751-2A>G	ENSP00000467329.1:n.751-2A>G
ENST00000591849.5:c.-98-929A>G	ENSP00000465347.1:n.-98-929A>G
NM_007294.3:c.5278-2A>G , LRG_292t1:c.5278-2A>G	NP_009225.1:n.5278-2A>G
NM_007297.3:c.5137-2A>G	NP_009228.2:n.5137-2A>G
NM_007298.3:c.1966-2A>G	NP_009229.2:n.1966-2A>G
NM_007299.3:c.1966-2A>G	NP_009230.2:n.1966-2A>G
NM_007300.3:c.5341-2A>G	NP_009231.2:n.5341-2A>G
NR_027676.1:n.5414-2A>G
NM_007294.4:c.5278-2A>G MANE Select	NP_009225.1:n.5278-2A>G
NM_007297.4:c.5137-2A>G	NP_009228.2:n.5137-2A>G
NM_007299.4:c.1966-2A>G	NP_009230.2:n.1966-2A>G
NM_007300.4:c.5341-2A>G	NP_009231.2:n.5341-2A>G
NR_027676.2:n.5455-2A>G