Canonical Allele Identifier: CA10590778

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 489730
• ClinVar RCV Id: RCV000581039 ; RCV000804010 ; RCV001077241 ; RCV000781018
• dbSNP Id: rs1555575182
• gnomAD v4: 17-43049184-T-G
• MyVariant Identifiers: chr17:g.41201201T>G (hg19) ; chr17:g.43049184T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049184T>G , CM000679.2:g.43049184T>G	GRCh38
NC_000017.10:g.41201201T>G , CM000679.1:g.41201201T>G	GRCh37
NC_000017.9:g.38454727T>G	NCBI36
NG_005905.2:g.168800A>C , LRG_292:g.168800A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5340A>C	ENSP00000417241.2:p.Glu1780Asp
ENST00000470026.6:c.5343A>C	ENSP00000419274.2:p.Glu1781Asp
ENST00000473961.6:c.5217A>C	ENSP00000420201.2:p.Glu1739Asp
ENST00000476777.6:c.5337A>C	ENSP00000417554.2:p.Glu1779Asp
ENST00000477152.6:c.5265A>C	ENSP00000419988.2:p.Glu1755Asp
ENST00000478531.6:c.2031A>C	ENSP00000420412.2:p.Glu677Asp
ENST00000489037.2:c.5265A>C	ENSP00000420781.2:p.Glu1755Asp
ENST00000493919.6:c.1893A>C	ENSP00000418819.2:p.Glu631Asp
ENST00000494123.6:c.5343A>C	ENSP00000419103.2:p.Glu1781Asp
ENST00000497488.2:c.4455A>C	ENSP00000418986.2:p.Glu1485Asp
ENST00000618469.2:c.5343A>C	ENSP00000478114.2:p.Glu1781Asp
ENST00000634433.2:c.5220A>C	ENSP00000489431.2:p.Glu1740Asp
ENST00000644379.2:c.5409A>C	ENSP00000496570.2:p.Glu1803Asp
ENST00000644555.2:c.1893A>C	ENSP00000494614.2:p.Glu631Asp
ENST00000652672.2:c.5202A>C	ENSP00000498906.2:p.Glu1734Asp
ENST00000484087.6:c.1905A>C	ENSP00000419481.2:p.Glu635Asp
ENST00000700081.1:n.1226A>C
ENST00000357654.9:c.5343A>C MANE Select	ENSP00000350283.3:p.Glu1781Asp
ENST00000471181.7:c.5406A>C	ENSP00000418960.2:p.Glu1802Asp
ENST00000644379.1:c.1730A>C
ENST00000352993.7:c.1917A>C	ENSP00000312236.5:p.Glu639Asp
ENST00000357654.7:c.5343A>C	ENSP00000350283.3:p.Glu1781Asp
ENST00000461221.5:c.*5126A>C	ENSP00000418548.1:n.*5126A>C
ENST00000468300.5:c.2021-1481A>C	ENSP00000417148.1:n.2021-1481A>C
ENST00000471181.6:c.5406A>C	ENSP00000418960.2:p.Glu1802Asp
ENST00000491747.6:c.2031A>C	ENSP00000420705.2:p.Glu677Asp
ENST00000493795.5:c.5202A>C	ENSP00000418775.1:p.Glu1734Asp
ENST00000586385.5:c.273A>C	ENSP00000465818.1:p.Glu91Asp
ENST00000591534.5:c.816A>C	ENSP00000467329.1:p.Glu272Asp
ENST00000591849.5:c.42A>C	ENSP00000465347.1:p.Glu14Asp
NM_007294.3:c.5343A>C , LRG_292t1:c.5343A>C	NP_009225.1:p.Glu1781Asp
NM_007297.3:c.5202A>C	NP_009228.2:p.Glu1734Asp
NM_007298.3:c.2031A>C	NP_009229.2:p.Glu677Asp
NM_007299.3:c.2021-1481A>C	NP_009230.2:n.2021-1481A>C
NM_007300.3:c.5406A>C	NP_009231.2:p.Glu1802Asp
NR_027676.1:n.5479A>C
NM_007294.4:c.5343A>C MANE Select	NP_009225.1:p.Glu1781Asp
NM_007297.4:c.5202A>C	NP_009228.2:p.Glu1734Asp
NM_007299.4:c.2021-1481A>C	NP_009230.2:n.2021-1481A>C
NM_007300.4:c.5406A>C	NP_009231.2:p.Glu1802Asp
NR_027676.2:n.5520A>C