Canonical Allele Identifier: CA002775

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55173
• ClinVar RCV Id: RCV000077570 ; RCV000448320 ; RCV001381002 ; RCV003398636 ; RCV003477451 ; RCV001271023
• dbSNP Id: rs80357067
• MyVariant Identifiers: chr17:g.41234439G>A (hg19) ; chr17:g.43082422G>A (hg38)
• PubMed: PMID:17319787

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082422G>A , CM000679.2:g.43082422G>A	GRCh38
NC_000017.10:g.41234439G>A , CM000679.1:g.41234439G>A	GRCh37
NC_000017.9:g.38487965G>A	NCBI36
NG_005905.2:g.135562C>T , LRG_292:g.135562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4339C>T	ENSP00000417241.2:p.Gln1447Ter
ENST00000470026.6:c.4339C>T	ENSP00000419274.2:p.Gln1447Ter
ENST00000473961.6:c.4213C>T	ENSP00000420201.2:p.Gln1405Ter
ENST00000476777.6:c.4333C>T	ENSP00000417554.2:p.Gln1445Ter
ENST00000477152.6:c.4261C>T	ENSP00000419988.2:p.Gln1421Ter
ENST00000478531.6:c.1027C>T	ENSP00000420412.2:p.Gln343Ter
ENST00000489037.2:c.4261C>T	ENSP00000420781.2:p.Gln1421Ter
ENST00000493919.6:c.889C>T	ENSP00000418819.2:p.Gln297Ter
ENST00000494123.6:c.4339C>T	ENSP00000419103.2:p.Gln1447Ter
ENST00000497488.2:c.3451C>T	ENSP00000418986.2:p.Gln1151Ter
ENST00000618469.2:c.4339C>T	ENSP00000478114.2:p.Gln1447Ter
ENST00000634433.2:c.4216C>T	ENSP00000489431.2:p.Gln1406Ter
ENST00000644379.2:c.4339C>T	ENSP00000496570.2:p.Gln1447Ter
ENST00000644555.2:c.889C>T	ENSP00000494614.2:p.Gln297Ter
ENST00000652672.2:c.4198C>T	ENSP00000498906.2:p.Gln1400Ter
ENST00000484087.6:c.904C>T	ENSP00000419481.2:p.Gln302Ter
ENST00000700182.1:c.949C>T	ENSP00000514849.1:p.Gln317Ter
ENST00000357654.9:c.4339C>T MANE Select	ENSP00000350283.3:p.Gln1447Ter
ENST00000471181.7:c.4339C>T	ENSP00000418960.2:p.Gln1447Ter
ENST00000644379.1:c.660C>T
ENST00000352993.7:c.913C>T	ENSP00000312236.5:p.Gln305Ter
ENST00000357654.7:c.4339C>T	ENSP00000350283.3:p.Gln1447Ter
ENST00000461221.5:c.*4122C>T	ENSP00000418548.1:n.*4122C>T
ENST00000461574.1:c.633C>T
ENST00000468300.5:c.1030C>T	ENSP00000417148.1:p.Gln344Ter
ENST00000471181.6:c.4339C>T	ENSP00000418960.2:p.Gln1447Ter
ENST00000478531.5:c.1027C>T	ENSP00000420412.1:p.Gln343Ter
ENST00000484087.5:c.652C>T	ENSP00000419481.1:p.Gln218Ter
ENST00000487825.5:c.655C>T	ENSP00000418212.1:p.Gln219Ter
ENST00000491747.6:c.1030C>T	ENSP00000420705.2:p.Gln344Ter
ENST00000493795.5:c.4198C>T	ENSP00000418775.1:p.Gln1400Ter
ENST00000493919.5:c.889C>T	ENSP00000418819.1:p.Gln297Ter
ENST00000586385.5:c.5-18471C>T	ENSP00000465818.1:n.5-18471C>T
ENST00000591534.5:c.-43-7901C>T	ENSP00000467329.1:n.-43-7901C>T
ENST00000591849.5:c.-98-32232C>T	ENSP00000465347.1:n.-98-32232C>T
ENST00000621897.1:n.233C>T
NM_007294.3:c.4339C>T , LRG_292t1:c.4339C>T	NP_009225.1:p.Gln1447Ter
NM_007297.3:c.4198C>T	NP_009228.2:p.Gln1400Ter
NM_007298.3:c.1030C>T	NP_009229.2:p.Gln344Ter
NM_007299.3:c.1030C>T	NP_009230.2:p.Gln344Ter
NM_007300.3:c.4339C>T	NP_009231.2:p.Gln1447Ter
NR_027676.1:n.4475C>T
NM_007294.4:c.4339C>T MANE Select	NP_009225.1:p.Gln1447Ter
NM_007297.4:c.4198C>T	NP_009228.2:p.Gln1400Ter
NM_007299.4:c.1030C>T	NP_009230.2:p.Gln344Ter
NM_007300.4:c.4339C>T	NP_009231.2:p.Gln1447Ter
NR_027676.2:n.4516C>T