Canonical Allele Identifier: CA10591653

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 868860
• ClinVar RCV Id: RCV001077846
• dbSNP Id: rs2052371775
• MyVariant Identifiers: chr17:g.41222995C>G (hg19) ; chr17:g.43070978C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070978C>G , CM000679.2:g.43070978C>G	GRCh38
NC_000017.10:g.41222995C>G , CM000679.1:g.41222995C>G	GRCh37
NC_000017.9:g.38476521C>G	NCBI36
NG_005905.2:g.147006G>C , LRG_292:g.147006G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4933G>C	ENSP00000417241.2:p.Val1645Leu
ENST00000470026.6:c.4936G>C	ENSP00000419274.2:p.Val1646Leu
ENST00000473961.6:c.4810G>C	ENSP00000420201.2:p.Val1604Leu
ENST00000476777.6:c.4930G>C	ENSP00000417554.2:p.Val1644Leu
ENST00000477152.6:c.4858G>C	ENSP00000419988.2:p.Val1620Leu
ENST00000478531.6:c.1624G>C	ENSP00000420412.2:p.Val542Leu
ENST00000489037.2:c.4858G>C	ENSP00000420781.2:p.Val1620Leu
ENST00000493919.6:c.1486G>C	ENSP00000418819.2:p.Val496Leu
ENST00000494123.6:c.4936G>C	ENSP00000419103.2:p.Val1646Leu
ENST00000497488.2:c.4048G>C	ENSP00000418986.2:p.Val1350Leu
ENST00000618469.2:c.4936G>C	ENSP00000478114.2:p.Val1646Leu
ENST00000634433.2:c.4813G>C	ENSP00000489431.2:p.Val1605Leu
ENST00000644379.2:c.5002G>C	ENSP00000496570.2:p.Val1668Leu
ENST00000644555.2:c.1486G>C	ENSP00000494614.2:p.Val496Leu
ENST00000652672.2:c.4795G>C	ENSP00000498906.2:p.Val1599Leu
ENST00000484087.6:c.1498G>C	ENSP00000419481.2:p.Val500Leu
ENST00000700182.1:c.1543G>C	ENSP00000514849.1:p.Val515Leu
ENST00000357654.9:c.4936G>C MANE Select	ENSP00000350283.3:p.Val1646Leu
ENST00000471181.7:c.4999G>C	ENSP00000418960.2:p.Val1667Leu
ENST00000644379.1:c.1323G>C
ENST00000352993.7:c.1510G>C	ENSP00000312236.5:p.Val504Leu
ENST00000357654.7:c.4936G>C	ENSP00000350283.3:p.Val1646Leu
ENST00000461221.5:c.*4719G>C	ENSP00000418548.1:n.*4719G>C
ENST00000468300.5:c.1624G>C	ENSP00000417148.1:p.Val542Leu
ENST00000471181.6:c.4999G>C	ENSP00000418960.2:p.Val1667Leu
ENST00000472490.1:n.89G>C
ENST00000478531.5:c.1624G>C	ENSP00000420412.1:p.Val542Leu
ENST00000484087.5:c.1249G>C	ENSP00000419481.1:p.Val417Leu
ENST00000491747.6:c.1624G>C	ENSP00000420705.2:p.Val542Leu
ENST00000493795.5:c.4795G>C	ENSP00000418775.1:p.Val1599Leu
ENST00000493919.5:c.1486G>C	ENSP00000418819.1:p.Val496Leu
ENST00000586385.5:c.5-7027G>C	ENSP00000465818.1:n.5-7027G>C
ENST00000591534.5:c.409G>C	ENSP00000467329.1:p.Val137Leu
ENST00000591849.5:c.-98-20788G>C	ENSP00000465347.1:n.-98-20788G>C
NM_007294.3:c.4936G>C , LRG_292t1:c.4936G>C	NP_009225.1:p.Val1646Leu
NM_007297.3:c.4795G>C	NP_009228.2:p.Val1599Leu
NM_007298.3:c.1624G>C	NP_009229.2:p.Val542Leu
NM_007299.3:c.1624G>C	NP_009230.2:p.Val542Leu
NM_007300.3:c.4999G>C	NP_009231.2:p.Val1667Leu
NR_027676.1:n.5072G>C
NM_007294.4:c.4936G>C MANE Select	NP_009225.1:p.Val1646Leu
NM_007297.4:c.4795G>C	NP_009228.2:p.Val1599Leu
NM_007299.4:c.1624G>C	NP_009230.2:p.Val542Leu
NM_007300.4:c.4999G>C	NP_009231.2:p.Val1667Leu
NR_027676.2:n.5113G>C