Canonical Allele Identifier: CA003688

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 182173
• ClinVar RCV Id: RCV001181283
• dbSNP Id: rs730881501
• gnomAD v3: 17-43045758-C-T
• gnomAD v4: 17-43045758-C-T
• MyVariant Identifiers: chr17:g.41197775C>T (hg19) ; chr17:g.43045758C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045758C>T , CM000679.2:g.43045758C>T	GRCh38
NC_000017.10:g.41197775C>T , CM000679.1:g.41197775C>T	GRCh37
NC_000017.9:g.38451301C>T	NCBI36
NG_005905.2:g.172226G>A , LRG_292:g.172226G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5509G>A	ENSP00000417241.2:p.Val1837Met
ENST00000470026.6:c.5512G>A	ENSP00000419274.2:p.Val1838Met
ENST00000473961.6:c.5386G>A	ENSP00000420201.2:p.Val1796Met
ENST00000476777.6:c.5506G>A	ENSP00000417554.2:p.Val1836Met
ENST00000477152.6:c.5434G>A	ENSP00000419988.2:p.Val1812Met
ENST00000478531.6:c.2200G>A	ENSP00000420412.2:p.Val734Met
ENST00000489037.2:c.5434G>A	ENSP00000420781.2:p.Val1812Met
ENST00000493919.6:c.2062G>A	ENSP00000418819.2:p.Val688Met
ENST00000494123.6:c.5512G>A	ENSP00000419103.2:p.Val1838Met
ENST00000497488.2:c.4624G>A	ENSP00000418986.2:p.Val1542Met
ENST00000618469.2:c.5512G>A	ENSP00000478114.2:p.Val1838Met
ENST00000634433.2:c.5389G>A	ENSP00000489431.2:p.Val1797Met
ENST00000644379.2:c.5578G>A	ENSP00000496570.2:p.Val1860Met
ENST00000644555.2:c.2062G>A	ENSP00000494614.2:p.Val688Met
ENST00000652672.2:c.5371G>A	ENSP00000498906.2:p.Val1791Met
ENST00000484087.6:c.2074G>A	ENSP00000419481.2:p.Val692Met
ENST00000700081.1:n.1395G>A
ENST00000700082.1:n.876G>A
ENST00000357654.9:c.5512G>A MANE Select	ENSP00000350283.3:p.Val1838Met
ENST00000471181.7:c.5575G>A	ENSP00000418960.2:p.Val1859Met
ENST00000644379.1:c.1899G>A
ENST00000352993.7:c.2086G>A	ENSP00000312236.5:p.Val696Met
ENST00000357654.7:c.5512G>A	ENSP00000350283.3:p.Val1838Met
ENST00000461221.5:c.*5295G>A	ENSP00000418548.1:n.*5295G>A
ENST00000468300.5:c.*26G>A	ENSP00000417148.1:n.*26G>A
ENST00000471181.6:c.5575G>A	ENSP00000418960.2:p.Val1859Met
ENST00000491747.6:c.2200G>A	ENSP00000420705.2:p.Val734Met
ENST00000493795.5:c.5371G>A	ENSP00000418775.1:p.Val1791Met
ENST00000586385.5:c.442G>A	ENSP00000465818.1:p.Val148Met
ENST00000591534.5:c.985G>A	ENSP00000467329.1:p.Val329Met
ENST00000591849.5:c.211G>A	ENSP00000465347.1:p.Val71Met
NM_007294.3:c.5512G>A , LRG_292t1:c.5512G>A	NP_009225.1:p.Val1838Met
NM_007297.3:c.5371G>A	NP_009228.2:p.Val1791Met
NM_007298.3:c.2200G>A	NP_009229.2:p.Val734Met
NM_007299.3:c.*26G>A	NP_009230.2:n.*26G>A
NM_007300.3:c.5575G>A	NP_009231.2:p.Val1859Met
NR_027676.1:n.5648G>A
NM_007294.4:c.5512G>A MANE Select	NP_009225.1:p.Val1838Met
NM_007297.4:c.5371G>A	NP_009228.2:p.Val1791Met
NM_007299.4:c.*26G>A	NP_009230.2:n.*26G>A
NM_007300.4:c.5575G>A	NP_009231.2:p.Val1859Met
NR_027676.2:n.5689G>A