Canonical Allele Identifier: CA10589614

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266529
• ClinVar RCV Id: RCV000256774 ; RCV000571650 ; RCV000781017 ; RCV001355001 ; RCV003165707
• dbSNP Id: rs878854957
• MyVariant Identifiers: chr17:g.41215382G>A (hg19) ; chr17:g.43063365G>A (hg38)
• PubMed: PMID:20960228 ; PMID:23175448 ; PMID:26306726

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063365G>A , CM000679.2:g.43063365G>A	GRCh38
NC_000017.10:g.41215382G>A , CM000679.1:g.41215382G>A	GRCh37
NC_000017.9:g.38468908G>A	NCBI36
NG_005905.2:g.154619C>T , LRG_292:g.154619C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5158C>T	ENSP00000417241.2:p.Gln1720Ter
ENST00000470026.6:c.5161C>T	ENSP00000419274.2:p.Gln1721Ter
ENST00000473961.6:c.5035C>T	ENSP00000420201.2:p.Gln1679Ter
ENST00000476777.6:c.5155C>T	ENSP00000417554.2:p.Gln1719Ter
ENST00000477152.6:c.5083C>T	ENSP00000419988.2:p.Gln1695Ter
ENST00000478531.6:c.1849C>T	ENSP00000420412.2:p.Gln617Ter
ENST00000489037.2:c.5083C>T	ENSP00000420781.2:p.Gln1695Ter
ENST00000493919.6:c.1711C>T	ENSP00000418819.2:p.Gln571Ter
ENST00000494123.6:c.5161C>T	ENSP00000419103.2:p.Gln1721Ter
ENST00000497488.2:c.4273C>T	ENSP00000418986.2:p.Gln1425Ter
ENST00000618469.2:c.5161C>T	ENSP00000478114.2:p.Gln1721Ter
ENST00000634433.2:c.5038C>T	ENSP00000489431.2:p.Gln1680Ter
ENST00000644379.2:c.5227C>T	ENSP00000496570.2:p.Gln1743Ter
ENST00000644555.2:c.1711C>T	ENSP00000494614.2:p.Gln571Ter
ENST00000652672.2:c.5020C>T	ENSP00000498906.2:p.Gln1674Ter
ENST00000484087.6:c.1723C>T	ENSP00000419481.2:p.Gln575Ter
ENST00000357654.9:c.5161C>T MANE Select	ENSP00000350283.3:p.Gln1721Ter
ENST00000471181.7:c.5224C>T	ENSP00000418960.2:p.Gln1742Ter
ENST00000644379.1:c.1548C>T
ENST00000352993.7:c.1735C>T	ENSP00000312236.5:p.Gln579Ter
ENST00000357654.7:c.5161C>T	ENSP00000350283.3:p.Gln1721Ter
ENST00000461221.5:c.*4944C>T	ENSP00000418548.1:n.*4944C>T
ENST00000468300.5:c.1849C>T	ENSP00000417148.1:p.Gln617Ter
ENST00000471181.6:c.5224C>T	ENSP00000418960.2:p.Gln1742Ter
ENST00000478531.5:c.1849C>T	ENSP00000420412.1:p.Gln617Ter
ENST00000484087.5:c.1474C>T	ENSP00000419481.1:p.Gln492Ter
ENST00000491747.6:c.1849C>T	ENSP00000420705.2:p.Gln617Ter
ENST00000493795.5:c.5020C>T	ENSP00000418775.1:p.Gln1674Ter
ENST00000493919.5:c.1711C>T	ENSP00000418819.1:p.Gln571Ter
ENST00000586385.5:c.91C>T	ENSP00000465818.1:p.Gln31Ter
ENST00000591534.5:c.634C>T	ENSP00000467329.1:p.Gln212Ter
ENST00000591849.5:c.-98-13175C>T	ENSP00000465347.1:n.-98-13175C>T
NM_007294.3:c.5161C>T , LRG_292t1:c.5161C>T	NP_009225.1:p.Gln1721Ter
NM_007297.3:c.5020C>T	NP_009228.2:p.Gln1674Ter
NM_007298.3:c.1849C>T	NP_009229.2:p.Gln617Ter
NM_007299.3:c.1849C>T	NP_009230.2:p.Gln617Ter
NM_007300.3:c.5224C>T	NP_009231.2:p.Gln1742Ter
NR_027676.1:n.5297C>T
NM_007294.4:c.5161C>T MANE Select	NP_009225.1:p.Gln1721Ter
NM_007297.4:c.5020C>T	NP_009228.2:p.Gln1674Ter
NM_007299.4:c.1849C>T	NP_009230.2:p.Gln617Ter
NM_007300.4:c.5224C>T	NP_009231.2:p.Gln1742Ter
NR_027676.2:n.5338C>T