Canonical Allele Identifier: CA10590781

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868024
• ClinVar RCV Id: RCV001076833
• dbSNP Id: rs2051094692
• MyVariant Identifiers: chr17:g.41201202T>G (hg19) ; chr17:g.43049185T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049185T>G , CM000679.2:g.43049185T>G	GRCh38
NC_000017.10:g.41201202T>G , CM000679.1:g.41201202T>G	GRCh37
NC_000017.9:g.38454728T>G	NCBI36
NG_005905.2:g.168799A>C , LRG_292:g.168799A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5339A>C	ENSP00000417241.2:p.Glu1780Ala
ENST00000470026.6:c.5342A>C	ENSP00000419274.2:p.Glu1781Ala
ENST00000473961.6:c.5216A>C	ENSP00000420201.2:p.Glu1739Ala
ENST00000476777.6:c.5336A>C	ENSP00000417554.2:p.Glu1779Ala
ENST00000477152.6:c.5264A>C	ENSP00000419988.2:p.Glu1755Ala
ENST00000478531.6:c.2030A>C	ENSP00000420412.2:p.Glu677Ala
ENST00000489037.2:c.5264A>C	ENSP00000420781.2:p.Glu1755Ala
ENST00000493919.6:c.1892A>C	ENSP00000418819.2:p.Glu631Ala
ENST00000494123.6:c.5342A>C	ENSP00000419103.2:p.Glu1781Ala
ENST00000497488.2:c.4454A>C	ENSP00000418986.2:p.Glu1485Ala
ENST00000618469.2:c.5342A>C	ENSP00000478114.2:p.Glu1781Ala
ENST00000634433.2:c.5219A>C	ENSP00000489431.2:p.Glu1740Ala
ENST00000644379.2:c.5408A>C	ENSP00000496570.2:p.Glu1803Ala
ENST00000644555.2:c.1892A>C	ENSP00000494614.2:p.Glu631Ala
ENST00000652672.2:c.5201A>C	ENSP00000498906.2:p.Glu1734Ala
ENST00000484087.6:c.1904A>C	ENSP00000419481.2:p.Glu635Ala
ENST00000700081.1:n.1225A>C
ENST00000357654.9:c.5342A>C MANE Select	ENSP00000350283.3:p.Glu1781Ala
ENST00000471181.7:c.5405A>C	ENSP00000418960.2:p.Glu1802Ala
ENST00000644379.1:c.1729A>C
ENST00000352993.7:c.1916A>C	ENSP00000312236.5:p.Glu639Ala
ENST00000357654.7:c.5342A>C	ENSP00000350283.3:p.Glu1781Ala
ENST00000461221.5:c.*5125A>C	ENSP00000418548.1:n.*5125A>C
ENST00000468300.5:c.2021-1482A>C	ENSP00000417148.1:n.2021-1482A>C
ENST00000471181.6:c.5405A>C	ENSP00000418960.2:p.Glu1802Ala
ENST00000491747.6:c.2030A>C	ENSP00000420705.2:p.Glu677Ala
ENST00000493795.5:c.5201A>C	ENSP00000418775.1:p.Glu1734Ala
ENST00000586385.5:c.272A>C	ENSP00000465818.1:p.Glu91Ala
ENST00000591534.5:c.815A>C	ENSP00000467329.1:p.Glu272Ala
ENST00000591849.5:c.41A>C	ENSP00000465347.1:p.Glu14Ala
NM_007294.3:c.5342A>C , LRG_292t1:c.5342A>C	NP_009225.1:p.Glu1781Ala
NM_007297.3:c.5201A>C	NP_009228.2:p.Glu1734Ala
NM_007298.3:c.2030A>C	NP_009229.2:p.Glu677Ala
NM_007299.3:c.2021-1482A>C	NP_009230.2:n.2021-1482A>C
NM_007300.3:c.5405A>C	NP_009231.2:p.Glu1802Ala
NR_027676.1:n.5478A>C
NM_007294.4:c.5342A>C MANE Select	NP_009225.1:p.Glu1781Ala
NM_007297.4:c.5201A>C	NP_009228.2:p.Glu1734Ala
NM_007299.4:c.2021-1482A>C	NP_009230.2:n.2021-1482A>C
NM_007300.4:c.5405A>C	NP_009231.2:p.Glu1802Ala
NR_027676.2:n.5519A>C