Canonical Allele Identifier: CA10591552

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868082
• ClinVar RCV Id: RCV001076905
• dbSNP Id: rs2052353460
• MyVariant Identifiers: chr17:g.41222945A>T (hg19) ; chr17:g.43070928A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070928A>T , CM000679.2:g.43070928A>T	GRCh38
NC_000017.10:g.41222945A>T , CM000679.1:g.41222945A>T	GRCh37
NC_000017.9:g.38476471A>T	NCBI36
NG_005905.2:g.147056T>A , LRG_292:g.147056T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4983T>A	ENSP00000417241.2:p.Phe1661Leu
ENST00000470026.6:c.4986T>A	ENSP00000419274.2:p.Phe1662Leu
ENST00000473961.6:c.4860T>A	ENSP00000420201.2:p.Phe1620Leu
ENST00000476777.6:c.4980T>A	ENSP00000417554.2:p.Phe1660Leu
ENST00000477152.6:c.4908T>A	ENSP00000419988.2:p.Phe1636Leu
ENST00000478531.6:c.1674T>A	ENSP00000420412.2:p.Phe558Leu
ENST00000489037.2:c.4908T>A	ENSP00000420781.2:p.Phe1636Leu
ENST00000493919.6:c.1536T>A	ENSP00000418819.2:p.Phe512Leu
ENST00000494123.6:c.4986T>A	ENSP00000419103.2:p.Phe1662Leu
ENST00000497488.2:c.4098T>A	ENSP00000418986.2:p.Phe1366Leu
ENST00000618469.2:c.4986T>A	ENSP00000478114.2:p.Phe1662Leu
ENST00000634433.2:c.4863T>A	ENSP00000489431.2:p.Phe1621Leu
ENST00000644379.2:c.5052T>A	ENSP00000496570.2:p.Phe1684Leu
ENST00000644555.2:c.1536T>A	ENSP00000494614.2:p.Phe512Leu
ENST00000652672.2:c.4845T>A	ENSP00000498906.2:p.Phe1615Leu
ENST00000484087.6:c.1548T>A	ENSP00000419481.2:p.Phe516Leu
ENST00000700182.1:c.1593T>A	ENSP00000514849.1:p.Phe531Leu
ENST00000357654.9:c.4986T>A MANE Select	ENSP00000350283.3:p.Phe1662Leu
ENST00000471181.7:c.5049T>A	ENSP00000418960.2:p.Phe1683Leu
ENST00000644379.1:c.1373T>A
ENST00000352993.7:c.1560T>A	ENSP00000312236.5:p.Phe520Leu
ENST00000357654.7:c.4986T>A	ENSP00000350283.3:p.Phe1662Leu
ENST00000461221.5:c.*4769T>A	ENSP00000418548.1:n.*4769T>A
ENST00000468300.5:c.1674T>A	ENSP00000417148.1:p.Phe558Leu
ENST00000471181.6:c.5049T>A	ENSP00000418960.2:p.Phe1683Leu
ENST00000472490.1:n.139T>A
ENST00000478531.5:c.1674T>A	ENSP00000420412.1:p.Phe558Leu
ENST00000484087.5:c.1299T>A	ENSP00000419481.1:p.Phe433Leu
ENST00000491747.6:c.1674T>A	ENSP00000420705.2:p.Phe558Leu
ENST00000493795.5:c.4845T>A	ENSP00000418775.1:p.Phe1615Leu
ENST00000493919.5:c.1536T>A	ENSP00000418819.1:p.Phe512Leu
ENST00000586385.5:c.5-6977T>A	ENSP00000465818.1:n.5-6977T>A
ENST00000591534.5:c.459T>A	ENSP00000467329.1:p.Phe153Leu
ENST00000591849.5:c.-98-20738T>A	ENSP00000465347.1:n.-98-20738T>A
NM_007294.3:c.4986T>A , LRG_292t1:c.4986T>A	NP_009225.1:p.Phe1662Leu
NM_007297.3:c.4845T>A	NP_009228.2:p.Phe1615Leu
NM_007298.3:c.1674T>A	NP_009229.2:p.Phe558Leu
NM_007299.3:c.1674T>A	NP_009230.2:p.Phe558Leu
NM_007300.3:c.5049T>A	NP_009231.2:p.Phe1683Leu
NR_027676.1:n.5122T>A
NM_007294.4:c.4986T>A MANE Select	NP_009225.1:p.Phe1662Leu
NM_007297.4:c.4845T>A	NP_009228.2:p.Phe1615Leu
NM_007299.4:c.1674T>A	NP_009230.2:p.Phe558Leu
NM_007300.4:c.5049T>A	NP_009231.2:p.Phe1683Leu
NR_027676.2:n.5163T>A