Canonical Allele Identifier: CA002641

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37569
• ClinVar RCV Id: RCV000031150 ; RCV000048449 ; RCV000074589 ; RCV000162872 ; RCV000735478 ; RCV001353510
• dbSNP Id: rs80357259
• gnomAD v4: 17-43091012-C-A
• MyVariant Identifiers: chr17:g.41243029C>A (hg19) ; chr17:g.43091012C>A (hg38)
• PubMed: PMID:11179017 ; PMID:11773283 ; PMID:11870168 ; PMID:11938448 ; PMID:12655515 ; PMID:17233897 ; PMID:23958087 ; PMID:23996866 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091012C>A , CM000679.2:g.43091012C>A	GRCh38
NC_000017.10:g.41243029C>A , CM000679.1:g.41243029C>A	GRCh37
NC_000017.9:g.38496555C>A	NCBI36
NG_005905.2:g.126972G>T , LRG_292:g.126972G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4117G>T	ENSP00000417241.2:p.Glu1373Ter
ENST00000470026.6:c.4117G>T	ENSP00000419274.2:p.Glu1373Ter
ENST00000473961.6:c.3991G>T	ENSP00000420201.2:p.Glu1331Ter
ENST00000476777.6:c.4114G>T	ENSP00000417554.2:p.Glu1372Ter
ENST00000477152.6:c.4039G>T	ENSP00000419988.2:p.Glu1347Ter
ENST00000478531.6:c.805G>T	ENSP00000420412.2:p.Glu269Ter
ENST00000489037.2:c.4039G>T	ENSP00000420781.2:p.Glu1347Ter
ENST00000493919.6:c.667G>T	ENSP00000418819.2:p.Glu223Ter
ENST00000494123.6:c.4117G>T	ENSP00000419103.2:p.Glu1373Ter
ENST00000497488.2:c.3229G>T	ENSP00000418986.2:p.Glu1077Ter
ENST00000618469.2:c.4117G>T	ENSP00000478114.2:p.Glu1373Ter
ENST00000634433.2:c.3994G>T	ENSP00000489431.2:p.Glu1332Ter
ENST00000644379.2:c.4117G>T	ENSP00000496570.2:p.Glu1373Ter
ENST00000644555.2:c.667G>T	ENSP00000494614.2:p.Glu223Ter
ENST00000652672.2:c.3976G>T	ENSP00000498906.2:p.Glu1326Ter
ENST00000484087.6:c.685G>T	ENSP00000419481.2:p.Glu229Ter
ENST00000700182.1:c.727G>T	ENSP00000514849.1:p.Glu243Ter
ENST00000357654.9:c.4117G>T MANE Select	ENSP00000350283.3:p.Glu1373Ter
ENST00000471181.7:c.4117G>T	ENSP00000418960.2:p.Glu1373Ter
ENST00000644379.1:c.438G>T
ENST00000352993.7:c.691G>T	ENSP00000312236.5:p.Glu231Ter
ENST00000357654.7:c.4117G>T	ENSP00000350283.3:p.Glu1373Ter
ENST00000461221.5:c.*3900G>T	ENSP00000418548.1:n.*3900G>T
ENST00000461574.1:c.411G>T
ENST00000468300.5:c.808G>T	ENSP00000417148.1:p.Glu270Ter
ENST00000471181.6:c.4117G>T	ENSP00000418960.2:p.Glu1373Ter
ENST00000478531.5:c.805G>T	ENSP00000420412.1:p.Glu269Ter
ENST00000484087.5:c.430G>T	ENSP00000419481.1:p.Glu144Ter
ENST00000487825.5:c.433G>T	ENSP00000418212.1:p.Glu145Ter
ENST00000491747.6:c.808G>T	ENSP00000420705.2:p.Glu270Ter
ENST00000493795.5:c.3976G>T	ENSP00000418775.1:p.Glu1326Ter
ENST00000493919.5:c.667G>T	ENSP00000418819.1:p.Glu223Ter
ENST00000586385.5:c.5-27061G>T	ENSP00000465818.1:n.5-27061G>T
ENST00000591534.5:c.-43-16491G>T	ENSP00000467329.1:n.-43-16491G>T
ENST00000591849.5:c.-99+34259G>T	ENSP00000465347.1:n.-99+34259G>T
NM_007294.3:c.4117G>T , LRG_292t1:c.4117G>T	NP_009225.1:p.Glu1373Ter
NM_007297.3:c.3976G>T	NP_009228.2:p.Glu1326Ter
NM_007298.3:c.808G>T	NP_009229.2:p.Glu270Ter
NM_007299.3:c.808G>T	NP_009230.2:p.Glu270Ter
NM_007300.3:c.4117G>T	NP_009231.2:p.Glu1373Ter
NR_027676.1:n.4253G>T
NM_007294.4:c.4117G>T MANE Select	NP_009225.1:p.Glu1373Ter
NM_007297.4:c.3976G>T	NP_009228.2:p.Glu1326Ter
NM_007299.4:c.808G>T	NP_009230.2:p.Glu270Ter
NM_007300.4:c.4117G>T	NP_009231.2:p.Glu1373Ter
NR_027676.2:n.4294G>T