Canonical Allele Identifier: CA10591520

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 375448
• ClinVar RCV Id: RCV000416530 ; RCV001076928 ; RCV003168611
• dbSNP Id: rs1057519495
• gnomAD v4: 17-43067682-T-C
• MyVariant Identifiers: chr17:g.41219699T>C (hg19) ; chr17:g.43067682T>C (hg38)
• PubMed: PMID:17018160 ; PMID:21520273

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067682T>C , CM000679.2:g.43067682T>C	GRCh38
NC_000017.10:g.41219699T>C , CM000679.1:g.41219699T>C	GRCh37
NC_000017.9:g.38473225T>C	NCBI36
NG_005905.2:g.150302A>G , LRG_292:g.150302A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4997A>G	ENSP00000417241.2:p.Lys1666Arg
ENST00000470026.6:c.5000A>G	ENSP00000419274.2:p.Lys1667Arg
ENST00000473961.6:c.4874A>G	ENSP00000420201.2:p.Lys1625Arg
ENST00000476777.6:c.4994A>G	ENSP00000417554.2:p.Lys1665Arg
ENST00000477152.6:c.4922A>G	ENSP00000419988.2:p.Lys1641Arg
ENST00000478531.6:c.1688A>G	ENSP00000420412.2:p.Lys563Arg
ENST00000489037.2:c.4922A>G	ENSP00000420781.2:p.Lys1641Arg
ENST00000493919.6:c.1550A>G	ENSP00000418819.2:p.Lys517Arg
ENST00000494123.6:c.5000A>G	ENSP00000419103.2:p.Lys1667Arg
ENST00000497488.2:c.4112A>G	ENSP00000418986.2:p.Lys1371Arg
ENST00000618469.2:c.5000A>G	ENSP00000478114.2:p.Lys1667Arg
ENST00000634433.2:c.4877A>G	ENSP00000489431.2:p.Lys1626Arg
ENST00000644379.2:c.5066A>G	ENSP00000496570.2:p.Lys1689Arg
ENST00000644555.2:c.1550A>G	ENSP00000494614.2:p.Lys517Arg
ENST00000652672.2:c.4859A>G	ENSP00000498906.2:p.Lys1620Arg
ENST00000484087.6:c.1562A>G	ENSP00000419481.2:p.Lys521Arg
ENST00000357654.9:c.5000A>G MANE Select	ENSP00000350283.3:p.Lys1667Arg
ENST00000471181.7:c.5063A>G	ENSP00000418960.2:p.Lys1688Arg
ENST00000644379.1:c.1387A>G
ENST00000352993.7:c.1574A>G	ENSP00000312236.5:p.Lys525Arg
ENST00000357654.7:c.5000A>G	ENSP00000350283.3:p.Lys1667Arg
ENST00000461221.5:c.*4783A>G	ENSP00000418548.1:n.*4783A>G
ENST00000468300.5:c.1688A>G	ENSP00000417148.1:p.Lys563Arg
ENST00000471181.6:c.5063A>G	ENSP00000418960.2:p.Lys1688Arg
ENST00000472490.1:n.153A>G
ENST00000478531.5:c.1688A>G	ENSP00000420412.1:p.Lys563Arg
ENST00000484087.5:c.1313A>G	ENSP00000419481.1:p.Lys438Arg
ENST00000491747.6:c.1688A>G	ENSP00000420705.2:p.Lys563Arg
ENST00000493795.5:c.4859A>G	ENSP00000418775.1:p.Lys1620Arg
ENST00000493919.5:c.1550A>G	ENSP00000418819.1:p.Lys517Arg
ENST00000586385.5:c.5-3731A>G	ENSP00000465818.1:n.5-3731A>G
ENST00000591534.5:c.473A>G	ENSP00000467329.1:p.Lys158Arg
ENST00000591849.5:c.-98-17492A>G	ENSP00000465347.1:n.-98-17492A>G
NM_007294.3:c.5000A>G , LRG_292t1:c.5000A>G	NP_009225.1:p.Lys1667Arg
NM_007297.3:c.4859A>G	NP_009228.2:p.Lys1620Arg
NM_007298.3:c.1688A>G	NP_009229.2:p.Lys563Arg
NM_007299.3:c.1688A>G	NP_009230.2:p.Lys563Arg
NM_007300.3:c.5063A>G	NP_009231.2:p.Lys1688Arg
NR_027676.1:n.5136A>G
NM_007294.4:c.5000A>G MANE Select	NP_009225.1:p.Lys1667Arg
NM_007297.4:c.4859A>G	NP_009228.2:p.Lys1620Arg
NM_007299.4:c.1688A>G	NP_009230.2:p.Lys563Arg
NM_007300.4:c.5063A>G	NP_009231.2:p.Lys1688Arg
NR_027676.2:n.5177A>G