Canonical Allele Identifier: CA916080776

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865741
• ClinVar RCV Id: RCV001073216
• dbSNP Id: rs2050996293

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047706G>T , CM000679.2:g.43047706G>T	GRCh38
NC_000017.10:g.41199723G>T , CM000679.1:g.41199723G>T	GRCh37
NC_000017.9:g.38453249G>T	NCBI36
NG_005905.2:g.170278C>A , LRG_292:g.170278C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5404-3C>A	ENSP00000417241.2:n.5404-3C>A
ENST00000470026.6:c.5407-3C>A	ENSP00000419274.2:n.5407-3C>A
ENST00000473961.6:c.5281-3C>A	ENSP00000420201.2:n.5281-3C>A
ENST00000476777.6:c.5401-3C>A	ENSP00000417554.2:n.5401-3C>A
ENST00000477152.6:c.5329-3C>A	ENSP00000419988.2:n.5329-3C>A
ENST00000478531.6:c.2095-3C>A	ENSP00000420412.2:n.2095-3C>A
ENST00000489037.2:c.5329-3C>A	ENSP00000420781.2:n.5329-3C>A
ENST00000493919.6:c.1957-3C>A	ENSP00000418819.2:n.1957-3C>A
ENST00000494123.6:c.5407-3C>A	ENSP00000419103.2:n.5407-3C>A
ENST00000497488.2:c.4519-3C>A	ENSP00000418986.2:n.4519-3C>A
ENST00000618469.2:c.5407-3C>A	ENSP00000478114.2:n.5407-3C>A
ENST00000634433.2:c.5284-3C>A	ENSP00000489431.2:n.5284-3C>A
ENST00000644379.2:c.5473-3C>A	ENSP00000496570.2:n.5473-3C>A
ENST00000644555.2:c.1957-3C>A	ENSP00000494614.2:n.1957-3C>A
ENST00000652672.2:c.5266-3C>A	ENSP00000498906.2:n.5266-3C>A
ENST00000484087.6:c.1969-3C>A	ENSP00000419481.2:n.1969-3C>A
ENST00000700081.1:n.1290-3C>A
ENST00000700082.1:n.768C>A
ENST00000357654.9:c.5407-3C>A MANE Select	ENSP00000350283.3:n.5407-3C>A
ENST00000471181.7:c.5470-3C>A	ENSP00000418960.2:n.5470-3C>A
ENST00000644379.1:c.1794-3C>A
ENST00000352993.7:c.1981-3C>A	ENSP00000312236.5:n.1981-3C>A
ENST00000357654.7:c.5407-3C>A	ENSP00000350283.3:n.5407-3C>A
ENST00000461221.5:c.*5190-3C>A	ENSP00000418548.1:n.*5190-3C>A
ENST00000468300.5:c.2021-3C>A	ENSP00000417148.1:n.2021-3C>A
ENST00000471181.6:c.5470-3C>A	ENSP00000418960.2:n.5470-3C>A
ENST00000491747.6:c.2095-3C>A	ENSP00000420705.2:n.2095-3C>A
ENST00000493795.5:c.5266-3C>A	ENSP00000418775.1:n.5266-3C>A
ENST00000586385.5:c.337-3C>A	ENSP00000465818.1:n.337-3C>A
ENST00000591534.5:c.880-3C>A	ENSP00000467329.1:n.880-3C>A
ENST00000591849.5:c.106-3C>A	ENSP00000465347.1:n.106-3C>A
NM_007294.3:c.5407-3C>A , LRG_292t1:c.5407-3C>A	NP_009225.1:n.5407-3C>A
NM_007297.3:c.5266-3C>A	NP_009228.2:n.5266-3C>A
NM_007298.3:c.2095-3C>A	NP_009229.2:n.2095-3C>A
NM_007299.3:c.2021-3C>A	NP_009230.2:n.2021-3C>A
NM_007300.3:c.5470-3C>A	NP_009231.2:n.5470-3C>A
NR_027676.1:n.5543-3C>A
NM_007294.4:c.5407-3C>A MANE Select	NP_009225.1:n.5407-3C>A
NM_007297.4:c.5266-3C>A	NP_009228.2:n.5266-3C>A
NM_007299.4:c.2021-3C>A	NP_009230.2:n.2021-3C>A
NM_007300.4:c.5470-3C>A	NP_009231.2:n.5470-3C>A
NR_027676.2:n.5584-3C>A