Canonical Allele Identifier: CA10591131

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865155
• ClinVar RCV Id: RCV001072515
• dbSNP Id: rs869320780
• MyVariant Identifiers: chr17:g.41209144A>T (hg19) ; chr17:g.43057127A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057127A>T , CM000679.2:g.43057127A>T	GRCh38
NC_000017.10:g.41209144A>T , CM000679.1:g.41209144A>T	GRCh37
NC_000017.9:g.38462670A>T	NCBI36
NG_005905.2:g.160857T>A , LRG_292:g.160857T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5199T>A	ENSP00000417241.2:p.Phe1733Leu
ENST00000470026.6:c.5202T>A	ENSP00000419274.2:p.Phe1734Leu
ENST00000473961.6:c.5076T>A	ENSP00000420201.2:p.Phe1692Leu
ENST00000476777.6:c.5196T>A	ENSP00000417554.2:p.Phe1732Leu
ENST00000477152.6:c.5124T>A	ENSP00000419988.2:p.Phe1708Leu
ENST00000478531.6:c.1890T>A	ENSP00000420412.2:p.Phe630Leu
ENST00000489037.2:c.5124T>A	ENSP00000420781.2:p.Phe1708Leu
ENST00000493919.6:c.1752T>A	ENSP00000418819.2:p.Phe584Leu
ENST00000494123.6:c.5202T>A	ENSP00000419103.2:p.Phe1734Leu
ENST00000497488.2:c.4314T>A	ENSP00000418986.2:p.Phe1438Leu
ENST00000618469.2:c.5202T>A	ENSP00000478114.2:p.Phe1734Leu
ENST00000634433.2:c.5079T>A	ENSP00000489431.2:p.Phe1693Leu
ENST00000644379.2:c.5268T>A	ENSP00000496570.2:p.Phe1756Leu
ENST00000644555.2:c.1752T>A	ENSP00000494614.2:p.Phe584Leu
ENST00000652672.2:c.5061T>A	ENSP00000498906.2:p.Phe1687Leu
ENST00000484087.6:c.1764T>A	ENSP00000419481.2:p.Phe588Leu
ENST00000357654.9:c.5202T>A MANE Select	ENSP00000350283.3:p.Phe1734Leu
ENST00000471181.7:c.5265T>A	ENSP00000418960.2:p.Phe1755Leu
ENST00000644379.1:c.1589T>A
ENST00000352993.7:c.1776T>A	ENSP00000312236.5:p.Phe592Leu
ENST00000357654.7:c.5202T>A	ENSP00000350283.3:p.Phe1734Leu
ENST00000461221.5:c.*4985T>A	ENSP00000418548.1:n.*4985T>A
ENST00000468300.5:c.1890T>A	ENSP00000417148.1:p.Phe630Leu
ENST00000471181.6:c.5265T>A	ENSP00000418960.2:p.Phe1755Leu
ENST00000491747.6:c.1890T>A	ENSP00000420705.2:p.Phe630Leu
ENST00000493795.5:c.5061T>A	ENSP00000418775.1:p.Phe1687Leu
ENST00000586385.5:c.132T>A	ENSP00000465818.1:p.Phe44Leu
ENST00000591534.5:c.675T>A	ENSP00000467329.1:p.Phe225Leu
ENST00000591849.5:c.-98-6937T>A	ENSP00000465347.1:n.-98-6937T>A
NM_007294.3:c.5202T>A , LRG_292t1:c.5202T>A	NP_009225.1:p.Phe1734Leu
NM_007297.3:c.5061T>A	NP_009228.2:p.Phe1687Leu
NM_007298.3:c.1890T>A	NP_009229.2:p.Phe630Leu
NM_007299.3:c.1890T>A	NP_009230.2:p.Phe630Leu
NM_007300.3:c.5265T>A	NP_009231.2:p.Phe1755Leu
NR_027676.1:n.5338T>A
NM_007294.4:c.5202T>A MANE Select	NP_009225.1:p.Phe1734Leu
NM_007297.4:c.5061T>A	NP_009228.2:p.Phe1687Leu
NM_007299.4:c.1890T>A	NP_009230.2:p.Phe630Leu
NM_007300.4:c.5265T>A	NP_009231.2:p.Phe1755Leu
NR_027676.2:n.5379T>A