Canonical Allele Identifier: CA10594533

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1809546
• ClinVar RCV Id: RCV002481125 ; RCV003157205
• dbSNP Id: rs2154292840
• gnomAD v4: 17-43091815-G-A
• MyVariant Identifiers: chr17:g.41243832G>A (hg19) ; chr17:g.43091815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091815G>A , CM000679.2:g.43091815G>A	GRCh38
NC_000017.10:g.41243832G>A , CM000679.1:g.41243832G>A	GRCh37
NC_000017.9:g.38497358G>A	NCBI36
NG_005905.2:g.126169C>T , LRG_292:g.126169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3780C>T
ENST00000461574.2:c.3716C>T	ENSP00000417241.2:p.Ser1239Phe
ENST00000470026.6:c.3716C>T	ENSP00000419274.2:p.Ser1239Phe
ENST00000473961.6:c.3590C>T	ENSP00000420201.2:p.Ser1197Phe
ENST00000476777.6:c.3713C>T	ENSP00000417554.2:p.Ser1238Phe
ENST00000477152.6:c.3638C>T	ENSP00000419988.2:p.Ser1213Phe
ENST00000478531.6:c.785-783C>T	ENSP00000420412.2:n.785-783C>T
ENST00000489037.2:c.3638C>T	ENSP00000420781.2:p.Ser1213Phe
ENST00000493919.6:c.647-783C>T	ENSP00000418819.2:n.647-783C>T
ENST00000494123.6:c.3716C>T	ENSP00000419103.2:p.Ser1239Phe
ENST00000497488.2:c.2828C>T	ENSP00000418986.2:p.Ser943Phe
ENST00000618469.2:c.3716C>T	ENSP00000478114.2:p.Ser1239Phe
ENST00000634433.2:c.3593C>T	ENSP00000489431.2:p.Ser1198Phe
ENST00000644379.2:c.3716C>T	ENSP00000496570.2:p.Ser1239Phe
ENST00000644555.2:c.647-783C>T	ENSP00000494614.2:n.647-783C>T
ENST00000652672.2:c.3575C>T	ENSP00000498906.2:p.Ser1192Phe
ENST00000484087.6:c.665-783C>T	ENSP00000419481.2:n.665-783C>T
ENST00000700182.1:c.707-783C>T	ENSP00000514849.1:n.707-783C>T
ENST00000357654.9:c.3716C>T MANE Select	ENSP00000350283.3:p.Ser1239Phe
ENST00000471181.7:c.3716C>T	ENSP00000418960.2:p.Ser1239Phe
ENST00000644379.1:c.37C>T
ENST00000352993.7:c.671-783C>T	ENSP00000312236.5:n.671-783C>T
ENST00000354071.7:c.3716C>T	ENSP00000326002.7:p.Ser1239Phe
ENST00000357654.7:c.3716C>T	ENSP00000350283.3:p.Ser1239Phe
ENST00000461221.5:c.*3499C>T	ENSP00000418548.1:n.*3499C>T
ENST00000461574.1:c.10C>T
ENST00000468300.5:c.788-783C>T	ENSP00000417148.1:n.788-783C>T
ENST00000471181.6:c.3716C>T	ENSP00000418960.2:p.Ser1239Phe
ENST00000478531.5:c.785-783C>T	ENSP00000420412.1:n.785-783C>T
ENST00000484087.5:c.410-783C>T	ENSP00000419481.1:n.410-783C>T
ENST00000487825.5:c.413-783C>T	ENSP00000418212.1:n.413-783C>T
ENST00000491747.6:c.788-783C>T	ENSP00000420705.2:n.788-783C>T
ENST00000493795.5:c.3575C>T	ENSP00000418775.1:p.Ser1192Phe
ENST00000493919.5:c.647-783C>T	ENSP00000418819.1:n.647-783C>T
ENST00000586385.5:c.5-27864C>T	ENSP00000465818.1:n.5-27864C>T
ENST00000591534.5:c.-43-17294C>T	ENSP00000467329.1:n.-43-17294C>T
ENST00000591849.5:c.-99+33456C>T	ENSP00000465347.1:n.-99+33456C>T
NM_007294.3:c.3716C>T , LRG_292t1:c.3716C>T	NP_009225.1:p.Ser1239Phe
NM_007297.3:c.3575C>T	NP_009228.2:p.Ser1192Phe
NM_007298.3:c.788-783C>T	NP_009229.2:n.788-783C>T
NM_007299.3:c.788-783C>T	NP_009230.2:n.788-783C>T
NM_007300.3:c.3716C>T	NP_009231.2:p.Ser1239Phe
NR_027676.1:n.3852C>T
NM_007294.4:c.3716C>T MANE Select	NP_009225.1:p.Ser1239Phe
NM_007297.4:c.3575C>T	NP_009228.2:p.Ser1192Phe
NM_007299.4:c.788-783C>T	NP_009230.2:n.788-783C>T
NM_007300.4:c.3716C>T	NP_009231.2:p.Ser1239Phe
NR_027676.2:n.3893C>T