Canonical Allele Identifier: CA003662

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 142865
• ClinVar RCV Id: RCV000132312 ; RCV000508009 ; RCV000547690 ; RCV001076318 ; RCV001762322
• dbSNP Id: rs587782778
• gnomAD v4: 17-43045778-G-C
• MyVariant Identifiers: chr17:g.41197795G>C (hg19) ; chr17:g.43045778G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045778G>C , CM000679.2:g.43045778G>C	GRCh38
NC_000017.10:g.41197795G>C , CM000679.1:g.41197795G>C	GRCh37
NC_000017.9:g.38451321G>C	NCBI36
NG_005905.2:g.172206C>G , LRG_292:g.172206C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5489C>G	ENSP00000417241.2:p.Pro1830Arg
ENST00000470026.6:c.5492C>G	ENSP00000419274.2:p.Pro1831Arg
ENST00000473961.6:c.5366C>G	ENSP00000420201.2:p.Pro1789Arg
ENST00000476777.6:c.5486C>G	ENSP00000417554.2:p.Pro1829Arg
ENST00000477152.6:c.5414C>G	ENSP00000419988.2:p.Pro1805Arg
ENST00000478531.6:c.2180C>G	ENSP00000420412.2:p.Pro727Arg
ENST00000489037.2:c.5414C>G	ENSP00000420781.2:p.Pro1805Arg
ENST00000493919.6:c.2042C>G	ENSP00000418819.2:p.Pro681Arg
ENST00000494123.6:c.5492C>G	ENSP00000419103.2:p.Pro1831Arg
ENST00000497488.2:c.4604C>G	ENSP00000418986.2:p.Pro1535Arg
ENST00000618469.2:c.5492C>G	ENSP00000478114.2:p.Pro1831Arg
ENST00000634433.2:c.5369C>G	ENSP00000489431.2:p.Pro1790Arg
ENST00000644379.2:c.5558C>G	ENSP00000496570.2:p.Pro1853Arg
ENST00000644555.2:c.2042C>G	ENSP00000494614.2:p.Pro681Arg
ENST00000652672.2:c.5351C>G	ENSP00000498906.2:p.Pro1784Arg
ENST00000484087.6:c.2054C>G	ENSP00000419481.2:p.Pro685Arg
ENST00000700081.1:n.1375C>G
ENST00000700082.1:n.856C>G
ENST00000357654.9:c.5492C>G MANE Select	ENSP00000350283.3:p.Pro1831Arg
ENST00000471181.7:c.5555C>G	ENSP00000418960.2:p.Pro1852Arg
ENST00000644379.1:c.1879C>G
ENST00000352993.7:c.2066C>G	ENSP00000312236.5:p.Pro689Arg
ENST00000357654.7:c.5492C>G	ENSP00000350283.3:p.Pro1831Arg
ENST00000461221.5:c.*5275C>G	ENSP00000418548.1:n.*5275C>G
ENST00000468300.5:c.*6C>G	ENSP00000417148.1:n.*6C>G
ENST00000471181.6:c.5555C>G	ENSP00000418960.2:p.Pro1852Arg
ENST00000491747.6:c.2180C>G	ENSP00000420705.2:p.Pro727Arg
ENST00000493795.5:c.5351C>G	ENSP00000418775.1:p.Pro1784Arg
ENST00000586385.5:c.422C>G	ENSP00000465818.1:p.Pro141Arg
ENST00000591534.5:c.965C>G	ENSP00000467329.1:p.Pro322Arg
ENST00000591849.5:c.191C>G	ENSP00000465347.1:p.Pro64Arg
NM_007294.3:c.5492C>G , LRG_292t1:c.5492C>G	NP_009225.1:p.Pro1831Arg
NM_007297.3:c.5351C>G	NP_009228.2:p.Pro1784Arg
NM_007298.3:c.2180C>G	NP_009229.2:p.Pro727Arg
NM_007299.3:c.*6C>G	NP_009230.2:n.*6C>G
NM_007300.3:c.5555C>G	NP_009231.2:p.Pro1852Arg
NR_027676.1:n.5628C>G
NM_007294.4:c.5492C>G MANE Select	NP_009225.1:p.Pro1831Arg
NM_007297.4:c.5351C>G	NP_009228.2:p.Pro1784Arg
NM_007299.4:c.*6C>G	NP_009230.2:n.*6C>G
NM_007300.4:c.5555C>G	NP_009231.2:p.Pro1852Arg
NR_027676.2:n.5669C>G