Canonical Allele Identifier: CA003569

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125845
• ClinVar RCV Id: RCV000112642 ; RCV000496433 ; RCV001024050 ; RCV001353913 ; RCV002477263
• dbSNP Id: rs80358029
• gnomAD v4: 17-43047704-C-T
• MyVariant Identifiers: chr17:g.41199721C>T (hg19) ; chr17:g.43047704C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047704C>T , CM000679.2:g.43047704C>T	GRCh38
NC_000017.10:g.41199721C>T , CM000679.1:g.41199721C>T	GRCh37
NC_000017.9:g.38453247C>T	NCBI36
NG_005905.2:g.170280G>A , LRG_292:g.170280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5404-1G>A	ENSP00000417241.2:n.5404-1G>A
ENST00000470026.6:c.5407-1G>A	ENSP00000419274.2:n.5407-1G>A
ENST00000473961.6:c.5281-1G>A	ENSP00000420201.2:n.5281-1G>A
ENST00000476777.6:c.5401-1G>A	ENSP00000417554.2:n.5401-1G>A
ENST00000477152.6:c.5329-1G>A	ENSP00000419988.2:n.5329-1G>A
ENST00000478531.6:c.2095-1G>A	ENSP00000420412.2:n.2095-1G>A
ENST00000489037.2:c.5329-1G>A	ENSP00000420781.2:n.5329-1G>A
ENST00000493919.6:c.1957-1G>A	ENSP00000418819.2:n.1957-1G>A
ENST00000494123.6:c.5407-1G>A	ENSP00000419103.2:n.5407-1G>A
ENST00000497488.2:c.4519-1G>A	ENSP00000418986.2:n.4519-1G>A
ENST00000618469.2:c.5407-1G>A	ENSP00000478114.2:n.5407-1G>A
ENST00000634433.2:c.5284-1G>A	ENSP00000489431.2:n.5284-1G>A
ENST00000644379.2:c.5473-1G>A	ENSP00000496570.2:n.5473-1G>A
ENST00000644555.2:c.1957-1G>A	ENSP00000494614.2:n.1957-1G>A
ENST00000652672.2:c.5266-1G>A	ENSP00000498906.2:n.5266-1G>A
ENST00000484087.6:c.1969-1G>A	ENSP00000419481.2:n.1969-1G>A
ENST00000700081.1:n.1290-1G>A
ENST00000700082.1:n.770G>A
ENST00000357654.9:c.5407-1G>A MANE Select	ENSP00000350283.3:n.5407-1G>A
ENST00000471181.7:c.5470-1G>A	ENSP00000418960.2:n.5470-1G>A
ENST00000644379.1:c.1794-1G>A
ENST00000352993.7:c.1981-1G>A	ENSP00000312236.5:n.1981-1G>A
ENST00000357654.7:c.5407-1G>A	ENSP00000350283.3:n.5407-1G>A
ENST00000461221.5:c.*5190-1G>A	ENSP00000418548.1:n.*5190-1G>A
ENST00000468300.5:c.2021-1G>A	ENSP00000417148.1:n.2021-1G>A
ENST00000471181.6:c.5470-1G>A	ENSP00000418960.2:n.5470-1G>A
ENST00000491747.6:c.2095-1G>A	ENSP00000420705.2:n.2095-1G>A
ENST00000493795.5:c.5266-1G>A	ENSP00000418775.1:n.5266-1G>A
ENST00000586385.5:c.337-1G>A	ENSP00000465818.1:n.337-1G>A
ENST00000591534.5:c.880-1G>A	ENSP00000467329.1:n.880-1G>A
ENST00000591849.5:c.106-1G>A	ENSP00000465347.1:n.106-1G>A
NM_007294.3:c.5407-1G>A , LRG_292t1:c.5407-1G>A	NP_009225.1:n.5407-1G>A
NM_007297.3:c.5266-1G>A	NP_009228.2:n.5266-1G>A
NM_007298.3:c.2095-1G>A	NP_009229.2:n.2095-1G>A
NM_007299.3:c.2021-1G>A	NP_009230.2:n.2021-1G>A
NM_007300.3:c.5470-1G>A	NP_009231.2:n.5470-1G>A
NR_027676.1:n.5543-1G>A
NM_007294.4:c.5407-1G>A MANE Select	NP_009225.1:n.5407-1G>A
NM_007297.4:c.5266-1G>A	NP_009228.2:n.5266-1G>A
NM_007299.4:c.2021-1G>A	NP_009230.2:n.2021-1G>A
NM_007300.4:c.5470-1G>A	NP_009231.2:n.5470-1G>A
NR_027676.2:n.5584-1G>A