Canonical Allele Identifier: CA003496

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55534
• ClinVar RCV Id: RCV000112620 ; RCV001182076 ; RCV001390969
• dbSNP Id: rs80358126
• MyVariant Identifiers: chr17:g.41201212C>G (hg19) ; chr17:g.43049195C>G (hg38)
• PubMed: PMID:19215791

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049195C>G , CM000679.2:g.43049195C>G	GRCh38
NC_000017.10:g.41201212C>G , CM000679.1:g.41201212C>G	GRCh37
NC_000017.9:g.38454738C>G	NCBI36
NG_005905.2:g.168789G>C , LRG_292:g.168789G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5330-1G>C	ENSP00000417241.2:n.5330-1G>C
ENST00000470026.6:c.5333-1G>C	ENSP00000419274.2:n.5333-1G>C
ENST00000473961.6:c.5207-1G>C	ENSP00000420201.2:n.5207-1G>C
ENST00000476777.6:c.5327-1G>C	ENSP00000417554.2:n.5327-1G>C
ENST00000477152.6:c.5255-1G>C	ENSP00000419988.2:n.5255-1G>C
ENST00000478531.6:c.2021-1G>C	ENSP00000420412.2:n.2021-1G>C
ENST00000489037.2:c.5255-1G>C	ENSP00000420781.2:n.5255-1G>C
ENST00000493919.6:c.1883-1G>C	ENSP00000418819.2:n.1883-1G>C
ENST00000494123.6:c.5333-1G>C	ENSP00000419103.2:n.5333-1G>C
ENST00000497488.2:c.4445-1G>C	ENSP00000418986.2:n.4445-1G>C
ENST00000618469.2:c.5333-1G>C	ENSP00000478114.2:n.5333-1G>C
ENST00000634433.2:c.5210-1G>C	ENSP00000489431.2:n.5210-1G>C
ENST00000644379.2:c.5399-1G>C	ENSP00000496570.2:n.5399-1G>C
ENST00000644555.2:c.1883-1G>C	ENSP00000494614.2:n.1883-1G>C
ENST00000652672.2:c.5192-1G>C	ENSP00000498906.2:n.5192-1G>C
ENST00000484087.6:c.1895-1G>C	ENSP00000419481.2:n.1895-1G>C
ENST00000700081.1:n.1215G>C
ENST00000357654.9:c.5333-1G>C MANE Select	ENSP00000350283.3:n.5333-1G>C
ENST00000471181.7:c.5396-1G>C	ENSP00000418960.2:n.5396-1G>C
ENST00000644379.1:c.1720-1G>C
ENST00000352993.7:c.1907-1G>C	ENSP00000312236.5:n.1907-1G>C
ENST00000357654.7:c.5333-1G>C	ENSP00000350283.3:n.5333-1G>C
ENST00000461221.5:c.*5116-1G>C	ENSP00000418548.1:n.*5116-1G>C
ENST00000468300.5:c.2021-1492G>C	ENSP00000417148.1:n.2021-1492G>C
ENST00000471181.6:c.5396-1G>C	ENSP00000418960.2:n.5396-1G>C
ENST00000491747.6:c.2021-1G>C	ENSP00000420705.2:n.2021-1G>C
ENST00000493795.5:c.5192-1G>C	ENSP00000418775.1:n.5192-1G>C
ENST00000586385.5:c.263-1G>C	ENSP00000465818.1:n.263-1G>C
ENST00000591534.5:c.806-1G>C	ENSP00000467329.1:n.806-1G>C
ENST00000591849.5:c.32-1G>C	ENSP00000465347.1:n.32-1G>C
NM_007294.3:c.5333-1G>C , LRG_292t1:c.5333-1G>C	NP_009225.1:n.5333-1G>C
NM_007297.3:c.5192-1G>C	NP_009228.2:n.5192-1G>C
NM_007298.3:c.2021-1G>C	NP_009229.2:n.2021-1G>C
NM_007299.3:c.2021-1492G>C	NP_009230.2:n.2021-1492G>C
NM_007300.3:c.5396-1G>C	NP_009231.2:n.5396-1G>C
NR_027676.1:n.5469-1G>C
NM_007294.4:c.5333-1G>C MANE Select	NP_009225.1:n.5333-1G>C
NM_007297.4:c.5192-1G>C	NP_009228.2:n.5192-1G>C
NM_007299.4:c.2021-1492G>C	NP_009230.2:n.2021-1492G>C
NM_007300.4:c.5396-1G>C	NP_009231.2:n.5396-1G>C
NR_027676.2:n.5510-1G>C