Canonical Allele Identifier: CA16607608

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 386544
• ClinVar RCV Id: RCV000434812 ; RCV000565028 ; RCV001478297
• dbSNP Id: rs1057522527
• gnomAD v4: 17-43076544-C-T
• MyVariant Identifiers: chr17:g.41228561C>T (hg19) ; chr17:g.43076544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076544C>T , CM000679.2:g.43076544C>T	GRCh38
NC_000017.10:g.41228561C>T , CM000679.1:g.41228561C>T	GRCh37
NC_000017.9:g.38482087C>T	NCBI36
NG_005905.2:g.141440G>A , LRG_292:g.141440G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4425G>A	ENSP00000417241.2:p.Lys1475=
ENST00000470026.6:c.4428G>A	ENSP00000419274.2:p.Lys1476=
ENST00000473961.6:c.4302G>A	ENSP00000420201.2:p.Lys1434=
ENST00000476777.6:c.4422G>A	ENSP00000417554.2:p.Lys1474=
ENST00000477152.6:c.4350G>A	ENSP00000419988.2:p.Lys1450=
ENST00000478531.6:c.1116G>A	ENSP00000420412.2:p.Lys372=
ENST00000489037.2:c.4350G>A	ENSP00000420781.2:p.Lys1450=
ENST00000493919.6:c.978G>A	ENSP00000418819.2:p.Lys326=
ENST00000494123.6:c.4428G>A	ENSP00000419103.2:p.Lys1476=
ENST00000497488.2:c.3540G>A	ENSP00000418986.2:p.Lys1180=
ENST00000618469.2:c.4428G>A	ENSP00000478114.2:p.Lys1476=
ENST00000634433.2:c.4305G>A	ENSP00000489431.2:p.Lys1435=
ENST00000644379.2:c.4494G>A	ENSP00000496570.2:p.Lys1498=
ENST00000644555.2:c.978G>A	ENSP00000494614.2:p.Lys326=
ENST00000652672.2:c.4287G>A	ENSP00000498906.2:p.Lys1429=
ENST00000484087.6:c.990G>A	ENSP00000419481.2:p.Lys330=
ENST00000700182.1:c.1035G>A	ENSP00000514849.1:p.Lys345=
ENST00000357654.9:c.4428G>A MANE Select	ENSP00000350283.3:p.Lys1476=
ENST00000471181.7:c.4491G>A	ENSP00000418960.2:p.Lys1497=
ENST00000644379.1:c.815G>A
ENST00000352993.7:c.1002G>A	ENSP00000312236.5:p.Lys334=
ENST00000357654.7:c.4428G>A	ENSP00000350283.3:p.Lys1476=
ENST00000461221.5:c.*4211G>A	ENSP00000418548.1:n.*4211G>A
ENST00000461574.1:c.719G>A
ENST00000468300.5:c.1116G>A	ENSP00000417148.1:p.Lys372=
ENST00000471181.6:c.4491G>A	ENSP00000418960.2:p.Lys1497=
ENST00000478531.5:c.1116G>A	ENSP00000420412.1:p.Lys372=
ENST00000484087.5:c.741G>A	ENSP00000419481.1:p.Lys247=
ENST00000487825.5:c.744G>A	ENSP00000418212.1:p.Lys248=
ENST00000491747.6:c.1116G>A	ENSP00000420705.2:p.Lys372=
ENST00000493795.5:c.4287G>A	ENSP00000418775.1:p.Lys1429=
ENST00000493919.5:c.978G>A	ENSP00000418819.1:p.Lys326=
ENST00000586385.5:c.5-12593G>A	ENSP00000465818.1:n.5-12593G>A
ENST00000591534.5:c.-43-2023G>A	ENSP00000467329.1:n.-43-2023G>A
ENST00000591849.5:c.-98-26354G>A	ENSP00000465347.1:n.-98-26354G>A
ENST00000621897.1:n.319G>A
NM_007294.3:c.4428G>A , LRG_292t1:c.4428G>A	NP_009225.1:p.Lys1476=
NM_007297.3:c.4287G>A	NP_009228.2:p.Lys1429=
NM_007298.3:c.1116G>A	NP_009229.2:p.Lys372=
NM_007299.3:c.1116G>A	NP_009230.2:p.Lys372=
NM_007300.3:c.4491G>A	NP_009231.2:p.Lys1497=
NR_027676.1:n.4564G>A
NM_007294.4:c.4428G>A MANE Select	NP_009225.1:p.Lys1476=
NM_007297.4:c.4287G>A	NP_009228.2:p.Lys1429=
NM_007299.4:c.1116G>A	NP_009230.2:p.Lys372=
NM_007300.4:c.4491G>A	NP_009231.2:p.Lys1497=
NR_027676.2:n.4605G>A