Canonical Allele Identifier: CA10592810

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 3226154
• ClinVar RCV Id: RCV004519389
• MyVariant Identifiers: chr17:g.41228624T>G (hg19) ; chr17:g.43076607T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076607T>G , CM000679.2:g.43076607T>G	GRCh38
NC_000017.10:g.41228624T>G , CM000679.1:g.41228624T>G	GRCh37
NC_000017.9:g.38482150T>G	NCBI36
NG_005905.2:g.141377A>C , LRG_292:g.141377A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4362A>C	ENSP00000417241.2:p.Leu1454Phe
ENST00000470026.6:c.4365A>C	ENSP00000419274.2:p.Leu1455Phe
ENST00000473961.6:c.4239A>C	ENSP00000420201.2:p.Leu1413Phe
ENST00000476777.6:c.4359A>C	ENSP00000417554.2:p.Leu1453Phe
ENST00000477152.6:c.4287A>C	ENSP00000419988.2:p.Leu1429Phe
ENST00000478531.6:c.1053A>C	ENSP00000420412.2:p.Leu351Phe
ENST00000489037.2:c.4287A>C	ENSP00000420781.2:p.Leu1429Phe
ENST00000493919.6:c.915A>C	ENSP00000418819.2:p.Leu305Phe
ENST00000494123.6:c.4365A>C	ENSP00000419103.2:p.Leu1455Phe
ENST00000497488.2:c.3477A>C	ENSP00000418986.2:p.Leu1159Phe
ENST00000618469.2:c.4365A>C	ENSP00000478114.2:p.Leu1455Phe
ENST00000634433.2:c.4242A>C	ENSP00000489431.2:p.Leu1414Phe
ENST00000644379.2:c.4431A>C	ENSP00000496570.2:p.Leu1477Phe
ENST00000644555.2:c.915A>C	ENSP00000494614.2:p.Leu305Phe
ENST00000652672.2:c.4224A>C	ENSP00000498906.2:p.Leu1408Phe
ENST00000484087.6:c.927A>C	ENSP00000419481.2:p.Leu309Phe
ENST00000700182.1:c.972A>C	ENSP00000514849.1:p.Leu324Phe
ENST00000357654.9:c.4365A>C MANE Select	ENSP00000350283.3:p.Leu1455Phe
ENST00000471181.7:c.4428A>C	ENSP00000418960.2:p.Leu1476Phe
ENST00000644379.1:c.752A>C
ENST00000352993.7:c.939A>C	ENSP00000312236.5:p.Leu313Phe
ENST00000357654.7:c.4365A>C	ENSP00000350283.3:p.Leu1455Phe
ENST00000461221.5:c.*4148A>C	ENSP00000418548.1:n.*4148A>C
ENST00000461574.1:c.656A>C
ENST00000468300.5:c.1053A>C	ENSP00000417148.1:p.Leu351Phe
ENST00000471181.6:c.4428A>C	ENSP00000418960.2:p.Leu1476Phe
ENST00000478531.5:c.1053A>C	ENSP00000420412.1:p.Leu351Phe
ENST00000484087.5:c.678A>C	ENSP00000419481.1:p.Leu226Phe
ENST00000487825.5:c.681A>C	ENSP00000418212.1:p.Leu227Phe
ENST00000491747.6:c.1053A>C	ENSP00000420705.2:p.Leu351Phe
ENST00000493795.5:c.4224A>C	ENSP00000418775.1:p.Leu1408Phe
ENST00000493919.5:c.915A>C	ENSP00000418819.1:p.Leu305Phe
ENST00000586385.5:c.5-12656A>C	ENSP00000465818.1:n.5-12656A>C
ENST00000591534.5:c.-43-2086A>C	ENSP00000467329.1:n.-43-2086A>C
ENST00000591849.5:c.-98-26417A>C	ENSP00000465347.1:n.-98-26417A>C
ENST00000621897.1:n.256A>C
NM_007294.3:c.4365A>C , LRG_292t1:c.4365A>C	NP_009225.1:p.Leu1455Phe
NM_007297.3:c.4224A>C	NP_009228.2:p.Leu1408Phe
NM_007298.3:c.1053A>C	NP_009229.2:p.Leu351Phe
NM_007299.3:c.1053A>C	NP_009230.2:p.Leu351Phe
NM_007300.3:c.4428A>C	NP_009231.2:p.Leu1476Phe
NR_027676.1:n.4501A>C
NM_007294.4:c.4365A>C MANE Select	NP_009225.1:p.Leu1455Phe
NM_007297.4:c.4224A>C	NP_009228.2:p.Leu1408Phe
NM_007299.4:c.1053A>C	NP_009230.2:p.Leu351Phe
NM_007300.4:c.4428A>C	NP_009231.2:p.Leu1476Phe
NR_027676.2:n.4542A>C