Canonical Allele Identifier: CA10591574

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865748
• ClinVar RCV Id: RCV001073223
• dbSNP Id: rs2052357390
• MyVariant Identifiers: chr17:g.41222955G>C (hg19) ; chr17:g.43070938G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070938G>C , CM000679.2:g.43070938G>C	GRCh38
NC_000017.10:g.41222955G>C , CM000679.1:g.41222955G>C	GRCh37
NC_000017.9:g.38476481G>C	NCBI36
NG_005905.2:g.147046C>G , LRG_292:g.147046C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4973C>G	ENSP00000417241.2:p.Pro1658Arg
ENST00000470026.6:c.4976C>G	ENSP00000419274.2:p.Pro1659Arg
ENST00000473961.6:c.4850C>G	ENSP00000420201.2:p.Pro1617Arg
ENST00000476777.6:c.4970C>G	ENSP00000417554.2:p.Pro1657Arg
ENST00000477152.6:c.4898C>G	ENSP00000419988.2:p.Pro1633Arg
ENST00000478531.6:c.1664C>G	ENSP00000420412.2:p.Pro555Arg
ENST00000489037.2:c.4898C>G	ENSP00000420781.2:p.Pro1633Arg
ENST00000493919.6:c.1526C>G	ENSP00000418819.2:p.Pro509Arg
ENST00000494123.6:c.4976C>G	ENSP00000419103.2:p.Pro1659Arg
ENST00000497488.2:c.4088C>G	ENSP00000418986.2:p.Pro1363Arg
ENST00000618469.2:c.4976C>G	ENSP00000478114.2:p.Pro1659Arg
ENST00000634433.2:c.4853C>G	ENSP00000489431.2:p.Pro1618Arg
ENST00000644379.2:c.5042C>G	ENSP00000496570.2:p.Pro1681Arg
ENST00000644555.2:c.1526C>G	ENSP00000494614.2:p.Pro509Arg
ENST00000652672.2:c.4835C>G	ENSP00000498906.2:p.Pro1612Arg
ENST00000484087.6:c.1538C>G	ENSP00000419481.2:p.Pro513Arg
ENST00000700182.1:c.1583C>G	ENSP00000514849.1:p.Pro528Arg
ENST00000357654.9:c.4976C>G MANE Select	ENSP00000350283.3:p.Pro1659Arg
ENST00000471181.7:c.5039C>G	ENSP00000418960.2:p.Pro1680Arg
ENST00000644379.1:c.1363C>G
ENST00000352993.7:c.1550C>G	ENSP00000312236.5:p.Pro517Arg
ENST00000357654.7:c.4976C>G	ENSP00000350283.3:p.Pro1659Arg
ENST00000461221.5:c.*4759C>G	ENSP00000418548.1:n.*4759C>G
ENST00000468300.5:c.1664C>G	ENSP00000417148.1:p.Pro555Arg
ENST00000471181.6:c.5039C>G	ENSP00000418960.2:p.Pro1680Arg
ENST00000472490.1:n.129C>G
ENST00000478531.5:c.1664C>G	ENSP00000420412.1:p.Pro555Arg
ENST00000484087.5:c.1289C>G	ENSP00000419481.1:p.Pro430Arg
ENST00000491747.6:c.1664C>G	ENSP00000420705.2:p.Pro555Arg
ENST00000493795.5:c.4835C>G	ENSP00000418775.1:p.Pro1612Arg
ENST00000493919.5:c.1526C>G	ENSP00000418819.1:p.Pro509Arg
ENST00000586385.5:c.5-6987C>G	ENSP00000465818.1:n.5-6987C>G
ENST00000591534.5:c.449C>G	ENSP00000467329.1:p.Pro150Arg
ENST00000591849.5:c.-98-20748C>G	ENSP00000465347.1:n.-98-20748C>G
NM_007294.3:c.4976C>G , LRG_292t1:c.4976C>G	NP_009225.1:p.Pro1659Arg
NM_007297.3:c.4835C>G	NP_009228.2:p.Pro1612Arg
NM_007298.3:c.1664C>G	NP_009229.2:p.Pro555Arg
NM_007299.3:c.1664C>G	NP_009230.2:p.Pro555Arg
NM_007300.3:c.5039C>G	NP_009231.2:p.Pro1680Arg
NR_027676.1:n.5112C>G
NM_007294.4:c.4976C>G MANE Select	NP_009225.1:p.Pro1659Arg
NM_007297.4:c.4835C>G	NP_009228.2:p.Pro1612Arg
NM_007299.4:c.1664C>G	NP_009230.2:p.Pro555Arg
NM_007300.4:c.5039C>G	NP_009231.2:p.Pro1680Arg
NR_027676.2:n.5153C>G