Canonical Allele Identifier: CA290821431

Gene: BRCA1

Linked Data

• dbSNP Id: rs546202759
• gnomAD v3: 17-43053776-C-T
• gnomAD v4: 17-43053776-C-T
• MyVariant Identifiers: chr17:g.41205793C>T (hg19) ; chr17:g.43053776C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43053776C>T , CM000679.2:g.43053776C>T	GRCh38
NC_000017.10:g.41205793C>T , CM000679.1:g.41205793C>T	GRCh37
NC_000017.9:g.38459319C>T	NCBI36
NG_005905.2:g.164208G>A , LRG_292:g.164208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5275-2659G>A	ENSP00000417241.2:n.5275-2659G>A
ENST00000470026.6:c.5278-2659G>A	ENSP00000419274.2:n.5278-2659G>A
ENST00000473961.6:c.5152-2659G>A	ENSP00000420201.2:n.5152-2659G>A
ENST00000476777.6:c.5272-2659G>A	ENSP00000417554.2:n.5272-2659G>A
ENST00000477152.6:c.5200-2659G>A	ENSP00000419988.2:n.5200-2659G>A
ENST00000478531.6:c.1966-2659G>A	ENSP00000420412.2:n.1966-2659G>A
ENST00000489037.2:c.5200-2659G>A	ENSP00000420781.2:n.5200-2659G>A
ENST00000493919.6:c.1828-2659G>A	ENSP00000418819.2:n.1828-2659G>A
ENST00000494123.6:c.5278-2659G>A	ENSP00000419103.2:n.5278-2659G>A
ENST00000497488.2:c.4390-2659G>A	ENSP00000418986.2:n.4390-2659G>A
ENST00000618469.2:c.5278-2659G>A	ENSP00000478114.2:n.5278-2659G>A
ENST00000634433.2:c.5155-2659G>A	ENSP00000489431.2:n.5155-2659G>A
ENST00000644379.2:c.5344-2659G>A	ENSP00000496570.2:n.5344-2659G>A
ENST00000644555.2:c.1828-2659G>A	ENSP00000494614.2:n.1828-2659G>A
ENST00000652672.2:c.5137-2659G>A	ENSP00000498906.2:n.5137-2659G>A
ENST00000484087.6:c.1840-2659G>A	ENSP00000419481.2:n.1840-2659G>A
ENST00000357654.9:c.5278-2659G>A MANE Select	ENSP00000350283.3:n.5278-2659G>A
ENST00000471181.7:c.5341-2659G>A	ENSP00000418960.2:n.5341-2659G>A
ENST00000644379.1:c.1665-2659G>A
ENST00000352993.7:c.1852-2659G>A	ENSP00000312236.5:n.1852-2659G>A
ENST00000357654.7:c.5278-2659G>A	ENSP00000350283.3:n.5278-2659G>A
ENST00000461221.5:c.*5061-2659G>A	ENSP00000418548.1:n.*5061-2659G>A
ENST00000468300.5:c.1966-2659G>A	ENSP00000417148.1:n.1966-2659G>A
ENST00000471181.6:c.5341-2659G>A	ENSP00000418960.2:n.5341-2659G>A
ENST00000491747.6:c.1966-2659G>A	ENSP00000420705.2:n.1966-2659G>A
ENST00000493795.5:c.5137-2659G>A	ENSP00000418775.1:n.5137-2659G>A
ENST00000586385.5:c.208-2659G>A	ENSP00000465818.1:n.208-2659G>A
ENST00000591534.5:c.751-2659G>A	ENSP00000467329.1:n.751-2659G>A
ENST00000591849.5:c.-98-3586G>A	ENSP00000465347.1:n.-98-3586G>A
NM_007294.3:c.5278-2659G>A , LRG_292t1:c.5278-2659G>A	NP_009225.1:n.5278-2659G>A
NM_007297.3:c.5137-2659G>A	NP_009228.2:n.5137-2659G>A
NM_007298.3:c.1966-2659G>A	NP_009229.2:n.1966-2659G>A
NM_007299.3:c.1966-2659G>A	NP_009230.2:n.1966-2659G>A
NM_007300.3:c.5341-2659G>A	NP_009231.2:n.5341-2659G>A
NR_027676.1:n.5414-2659G>A
NM_007294.4:c.5278-2659G>A MANE Select	NP_009225.1:n.5278-2659G>A
NM_007297.4:c.5137-2659G>A	NP_009228.2:n.5137-2659G>A
NM_007299.4:c.1966-2659G>A	NP_009230.2:n.1966-2659G>A
NM_007300.4:c.5341-2659G>A	NP_009231.2:n.5341-2659G>A
NR_027676.2:n.5455-2659G>A