Canonical Allele Identifier: CA003295

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55429
• ClinVar RCV Id: RCV000112530 ; RCV000496373 ; RCV000522401 ; RCV001023627
• dbSNP Id: rs80358137
• COSMIC: COSM706230 ; COSM4861595
• MyVariant Identifiers: chr17:g.41215391C>T (hg19) ; chr17:g.43063374C>T (hg38)
• PubMed: PMID:10755399

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063374C>T , CM000679.2:g.43063374C>T	GRCh38
NC_000017.10:g.41215391C>T , CM000679.1:g.41215391C>T	GRCh37
NC_000017.9:g.38468917C>T	NCBI36
NG_005905.2:g.154610G>A , LRG_292:g.154610G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5150-1G>A	ENSP00000417241.2:n.5150-1G>A
ENST00000470026.6:c.5153-1G>A	ENSP00000419274.2:n.5153-1G>A
ENST00000473961.6:c.5027-1G>A	ENSP00000420201.2:n.5027-1G>A
ENST00000476777.6:c.5147-1G>A	ENSP00000417554.2:n.5147-1G>A
ENST00000477152.6:c.5075-1G>A	ENSP00000419988.2:n.5075-1G>A
ENST00000478531.6:c.1841-1G>A	ENSP00000420412.2:n.1841-1G>A
ENST00000489037.2:c.5075-1G>A	ENSP00000420781.2:n.5075-1G>A
ENST00000493919.6:c.1703-1G>A	ENSP00000418819.2:n.1703-1G>A
ENST00000494123.6:c.5153-1G>A	ENSP00000419103.2:n.5153-1G>A
ENST00000497488.2:c.4265-1G>A	ENSP00000418986.2:n.4265-1G>A
ENST00000618469.2:c.5153-1G>A	ENSP00000478114.2:n.5153-1G>A
ENST00000634433.2:c.5030-1G>A	ENSP00000489431.2:n.5030-1G>A
ENST00000644379.2:c.5219-1G>A	ENSP00000496570.2:n.5219-1G>A
ENST00000644555.2:c.1703-1G>A	ENSP00000494614.2:n.1703-1G>A
ENST00000652672.2:c.5012-1G>A	ENSP00000498906.2:n.5012-1G>A
ENST00000484087.6:c.1715-1G>A	ENSP00000419481.2:n.1715-1G>A
ENST00000357654.9:c.5153-1G>A MANE Select	ENSP00000350283.3:n.5153-1G>A
ENST00000471181.7:c.5216-1G>A	ENSP00000418960.2:n.5216-1G>A
ENST00000644379.1:c.1540-1G>A
ENST00000352993.7:c.1727-1G>A	ENSP00000312236.5:n.1727-1G>A
ENST00000357654.7:c.5153-1G>A	ENSP00000350283.3:n.5153-1G>A
ENST00000461221.5:c.*4936-1G>A	ENSP00000418548.1:n.*4936-1G>A
ENST00000468300.5:c.1841-1G>A	ENSP00000417148.1:n.1841-1G>A
ENST00000471181.6:c.5216-1G>A	ENSP00000418960.2:n.5216-1G>A
ENST00000478531.5:c.1841-1G>A	ENSP00000420412.1:n.1841-1G>A
ENST00000484087.5:c.1466-1G>A	ENSP00000419481.1:n.1466-1G>A
ENST00000491747.6:c.1841-1G>A	ENSP00000420705.2:n.1841-1G>A
ENST00000493795.5:c.5012-1G>A	ENSP00000418775.1:n.5012-1G>A
ENST00000493919.5:c.1703-1G>A	ENSP00000418819.1:n.1703-1G>A
ENST00000586385.5:c.83-1G>A	ENSP00000465818.1:n.83-1G>A
ENST00000591534.5:c.626-1G>A	ENSP00000467329.1:n.626-1G>A
ENST00000591849.5:c.-98-13184G>A	ENSP00000465347.1:n.-98-13184G>A
NM_007294.3:c.5153-1G>A , LRG_292t1:c.5153-1G>A	NP_009225.1:n.5153-1G>A
NM_007297.3:c.5012-1G>A	NP_009228.2:n.5012-1G>A
NM_007298.3:c.1841-1G>A	NP_009229.2:n.1841-1G>A
NM_007299.3:c.1841-1G>A	NP_009230.2:n.1841-1G>A
NM_007300.3:c.5216-1G>A	NP_009231.2:n.5216-1G>A
NR_027676.1:n.5289-1G>A
NM_007294.4:c.5153-1G>A MANE Select	NP_009225.1:n.5153-1G>A
NM_007297.4:c.5012-1G>A	NP_009228.2:n.5012-1G>A
NM_007299.4:c.1841-1G>A	NP_009230.2:n.1841-1G>A
NM_007300.4:c.5216-1G>A	NP_009231.2:n.5216-1G>A
NR_027676.2:n.5330-1G>A