Canonical Allele Identifier: CA002657

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 37572
• ClinVar RCV Id: RCV000112270 ; RCV000213696 ; RCV001383858
• dbSNP Id: rs80357071
• MyVariant Identifiers: chr17:g.41242998G>C (hg19) ; chr17:g.43090981G>C (hg38)
• PubMed: PMID:24578176

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090981G>C , CM000679.2:g.43090981G>C	GRCh38
NC_000017.10:g.41242998G>C , CM000679.1:g.41242998G>C	GRCh37
NC_000017.9:g.38496524G>C	NCBI36
NG_005905.2:g.127003C>G , LRG_292:g.127003C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4148C>G	ENSP00000417241.2:p.Ser1383Ter
ENST00000470026.6:c.4148C>G	ENSP00000419274.2:p.Ser1383Ter
ENST00000473961.6:c.4022C>G	ENSP00000420201.2:p.Ser1341Ter
ENST00000476777.6:c.4145C>G	ENSP00000417554.2:p.Ser1382Ter
ENST00000477152.6:c.4070C>G	ENSP00000419988.2:p.Ser1357Ter
ENST00000478531.6:c.836C>G	ENSP00000420412.2:p.Ser279Ter
ENST00000489037.2:c.4070C>G	ENSP00000420781.2:p.Ser1357Ter
ENST00000493919.6:c.698C>G	ENSP00000418819.2:p.Ser233Ter
ENST00000494123.6:c.4148C>G	ENSP00000419103.2:p.Ser1383Ter
ENST00000497488.2:c.3260C>G	ENSP00000418986.2:p.Ser1087Ter
ENST00000618469.2:c.4148C>G	ENSP00000478114.2:p.Ser1383Ter
ENST00000634433.2:c.4025C>G	ENSP00000489431.2:p.Ser1342Ter
ENST00000644379.2:c.4148C>G	ENSP00000496570.2:p.Ser1383Ter
ENST00000644555.2:c.698C>G	ENSP00000494614.2:p.Ser233Ter
ENST00000652672.2:c.4007C>G	ENSP00000498906.2:p.Ser1336Ter
ENST00000484087.6:c.716C>G	ENSP00000419481.2:p.Ser239Ter
ENST00000700182.1:c.758C>G	ENSP00000514849.1:p.Ser253Ter
ENST00000357654.9:c.4148C>G MANE Select	ENSP00000350283.3:p.Ser1383Ter
ENST00000471181.7:c.4148C>G	ENSP00000418960.2:p.Ser1383Ter
ENST00000644379.1:c.469C>G
ENST00000352993.7:c.722C>G	ENSP00000312236.5:p.Ser241Ter
ENST00000357654.7:c.4148C>G	ENSP00000350283.3:p.Ser1383Ter
ENST00000461221.5:c.*3931C>G	ENSP00000418548.1:n.*3931C>G
ENST00000461574.1:c.442C>G
ENST00000468300.5:c.839C>G	ENSP00000417148.1:p.Ser280Ter
ENST00000471181.6:c.4148C>G	ENSP00000418960.2:p.Ser1383Ter
ENST00000478531.5:c.836C>G	ENSP00000420412.1:p.Ser279Ter
ENST00000484087.5:c.461C>G	ENSP00000419481.1:p.Ser154Ter
ENST00000487825.5:c.464C>G	ENSP00000418212.1:p.Ser155Ter
ENST00000491747.6:c.839C>G	ENSP00000420705.2:p.Ser280Ter
ENST00000493795.5:c.4007C>G	ENSP00000418775.1:p.Ser1336Ter
ENST00000493919.5:c.698C>G	ENSP00000418819.1:p.Ser233Ter
ENST00000586385.5:c.5-27030C>G	ENSP00000465818.1:n.5-27030C>G
ENST00000591534.5:c.-43-16460C>G	ENSP00000467329.1:n.-43-16460C>G
ENST00000591849.5:c.-99+34290C>G	ENSP00000465347.1:n.-99+34290C>G
NM_007294.3:c.4148C>G , LRG_292t1:c.4148C>G	NP_009225.1:p.Ser1383Ter
NM_007297.3:c.4007C>G	NP_009228.2:p.Ser1336Ter
NM_007298.3:c.839C>G	NP_009229.2:p.Ser280Ter
NM_007299.3:c.839C>G	NP_009230.2:p.Ser280Ter
NM_007300.3:c.4148C>G	NP_009231.2:p.Ser1383Ter
NR_027676.1:n.4284C>G
NM_007294.4:c.4148C>G MANE Select	NP_009225.1:p.Ser1383Ter
NM_007297.4:c.4007C>G	NP_009228.2:p.Ser1336Ter
NM_007299.4:c.839C>G	NP_009230.2:p.Ser280Ter
NM_007300.4:c.4148C>G	NP_009231.2:p.Ser1383Ter
NR_027676.2:n.4325C>G