Canonical Allele Identifier: CA10590581

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867386
• ClinVar RCV Id: RCV001076063 ; RCV002348509
• dbSNP Id: rs2050988927
• gnomAD v4: 17-43047682-C-G
• MyVariant Identifiers: chr17:g.41199699C>G (hg19) ; chr17:g.43047682C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047682C>G , CM000679.2:g.43047682C>G	GRCh38
NC_000017.10:g.41199699C>G , CM000679.1:g.41199699C>G	GRCh37
NC_000017.9:g.38453225C>G	NCBI36
NG_005905.2:g.170302G>C , LRG_292:g.170302G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5425G>C	ENSP00000417241.2:p.Val1809Leu
ENST00000470026.6:c.5428G>C	ENSP00000419274.2:p.Val1810Leu
ENST00000473961.6:c.5302G>C	ENSP00000420201.2:p.Val1768Leu
ENST00000476777.6:c.5422G>C	ENSP00000417554.2:p.Val1808Leu
ENST00000477152.6:c.5350G>C	ENSP00000419988.2:p.Val1784Leu
ENST00000478531.6:c.2116G>C	ENSP00000420412.2:p.Val706Leu
ENST00000489037.2:c.5350G>C	ENSP00000420781.2:p.Val1784Leu
ENST00000493919.6:c.1978G>C	ENSP00000418819.2:p.Val660Leu
ENST00000494123.6:c.5428G>C	ENSP00000419103.2:p.Val1810Leu
ENST00000497488.2:c.4540G>C	ENSP00000418986.2:p.Val1514Leu
ENST00000618469.2:c.5428G>C	ENSP00000478114.2:p.Val1810Leu
ENST00000634433.2:c.5305G>C	ENSP00000489431.2:p.Val1769Leu
ENST00000644379.2:c.5494G>C	ENSP00000496570.2:p.Val1832Leu
ENST00000644555.2:c.1978G>C	ENSP00000494614.2:p.Val660Leu
ENST00000652672.2:c.5287G>C	ENSP00000498906.2:p.Val1763Leu
ENST00000484087.6:c.1990G>C	ENSP00000419481.2:p.Val664Leu
ENST00000700081.1:n.1311G>C
ENST00000700082.1:n.792G>C
ENST00000357654.9:c.5428G>C MANE Select	ENSP00000350283.3:p.Val1810Leu
ENST00000471181.7:c.5491G>C	ENSP00000418960.2:p.Val1831Leu
ENST00000644379.1:c.1815G>C
ENST00000352993.7:c.2002G>C	ENSP00000312236.5:p.Val668Leu
ENST00000357654.7:c.5428G>C	ENSP00000350283.3:p.Val1810Leu
ENST00000461221.5:c.*5211G>C	ENSP00000418548.1:n.*5211G>C
ENST00000468300.5:c.2042G>C	ENSP00000417148.1:p.Cys681Ser
ENST00000471181.6:c.5491G>C	ENSP00000418960.2:p.Val1831Leu
ENST00000491747.6:c.2116G>C	ENSP00000420705.2:p.Val706Leu
ENST00000493795.5:c.5287G>C	ENSP00000418775.1:p.Val1763Leu
ENST00000586385.5:c.358G>C	ENSP00000465818.1:p.Val120Leu
ENST00000591534.5:c.901G>C	ENSP00000467329.1:p.Val301Leu
ENST00000591849.5:c.127G>C	ENSP00000465347.1:p.Val43Leu
NM_007294.3:c.5428G>C , LRG_292t1:c.5428G>C	NP_009225.1:p.Val1810Leu
NM_007297.3:c.5287G>C	NP_009228.2:p.Val1763Leu
NM_007298.3:c.2116G>C	NP_009229.2:p.Val706Leu
NM_007299.3:c.2042G>C	NP_009230.2:p.Cys681Ser
NM_007300.3:c.5491G>C	NP_009231.2:p.Val1831Leu
NR_027676.1:n.5564G>C
NM_007294.4:c.5428G>C MANE Select	NP_009225.1:p.Val1810Leu
NM_007297.4:c.5287G>C	NP_009228.2:p.Val1763Leu
NM_007299.4:c.2042G>C	NP_009230.2:p.Cys681Ser
NM_007300.4:c.5491G>C	NP_009231.2:p.Val1831Leu
NR_027676.2:n.5605G>C