Canonical Allele Identifier: CA002803

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55183
• ClinVar RCV Id: RCV000112328 ; RCV000131884 ; RCV000657617 ; RCV001381001
• dbSNP Id: rs80356932
• gnomAD v4: 17-43076600-G-A
• MyVariant Identifiers: chr17:g.41228617G>A (hg19) ; chr17:g.43076600G>A (hg38)
• PubMed: PMID:12827452 ; PMID:19353265

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076600G>A , CM000679.2:g.43076600G>A	GRCh38
NC_000017.10:g.41228617G>A , CM000679.1:g.41228617G>A	GRCh37
NC_000017.9:g.38482143G>A	NCBI36
NG_005905.2:g.141384C>T , LRG_292:g.141384C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4369C>T	ENSP00000417241.2:p.Gln1457Ter
ENST00000470026.6:c.4372C>T	ENSP00000419274.2:p.Gln1458Ter
ENST00000473961.6:c.4246C>T	ENSP00000420201.2:p.Gln1416Ter
ENST00000476777.6:c.4366C>T	ENSP00000417554.2:p.Gln1456Ter
ENST00000477152.6:c.4294C>T	ENSP00000419988.2:p.Gln1432Ter
ENST00000478531.6:c.1060C>T	ENSP00000420412.2:p.Gln354Ter
ENST00000489037.2:c.4294C>T	ENSP00000420781.2:p.Gln1432Ter
ENST00000493919.6:c.922C>T	ENSP00000418819.2:p.Gln308Ter
ENST00000494123.6:c.4372C>T	ENSP00000419103.2:p.Gln1458Ter
ENST00000497488.2:c.3484C>T	ENSP00000418986.2:p.Gln1162Ter
ENST00000618469.2:c.4372C>T	ENSP00000478114.2:p.Gln1458Ter
ENST00000634433.2:c.4249C>T	ENSP00000489431.2:p.Gln1417Ter
ENST00000644379.2:c.4438C>T	ENSP00000496570.2:p.Gln1480Ter
ENST00000644555.2:c.922C>T	ENSP00000494614.2:p.Gln308Ter
ENST00000652672.2:c.4231C>T	ENSP00000498906.2:p.Gln1411Ter
ENST00000484087.6:c.934C>T	ENSP00000419481.2:p.Gln312Ter
ENST00000700182.1:c.979C>T	ENSP00000514849.1:p.Gln327Ter
ENST00000357654.9:c.4372C>T MANE Select	ENSP00000350283.3:p.Gln1458Ter
ENST00000471181.7:c.4435C>T	ENSP00000418960.2:p.Gln1479Ter
ENST00000644379.1:c.759C>T
ENST00000352993.7:c.946C>T	ENSP00000312236.5:p.Gln316Ter
ENST00000357654.7:c.4372C>T	ENSP00000350283.3:p.Gln1458Ter
ENST00000461221.5:c.*4155C>T	ENSP00000418548.1:n.*4155C>T
ENST00000461574.1:c.663C>T
ENST00000468300.5:c.1060C>T	ENSP00000417148.1:p.Gln354Ter
ENST00000471181.6:c.4435C>T	ENSP00000418960.2:p.Gln1479Ter
ENST00000478531.5:c.1060C>T	ENSP00000420412.1:p.Gln354Ter
ENST00000484087.5:c.685C>T	ENSP00000419481.1:p.Gln229Ter
ENST00000487825.5:c.688C>T	ENSP00000418212.1:p.Gln230Ter
ENST00000491747.6:c.1060C>T	ENSP00000420705.2:p.Gln354Ter
ENST00000493795.5:c.4231C>T	ENSP00000418775.1:p.Gln1411Ter
ENST00000493919.5:c.922C>T	ENSP00000418819.1:p.Gln308Ter
ENST00000586385.5:c.5-12649C>T	ENSP00000465818.1:n.5-12649C>T
ENST00000591534.5:c.-43-2079C>T	ENSP00000467329.1:n.-43-2079C>T
ENST00000591849.5:c.-98-26410C>T	ENSP00000465347.1:n.-98-26410C>T
ENST00000621897.1:n.263C>T
NM_007294.3:c.4372C>T , LRG_292t1:c.4372C>T	NP_009225.1:p.Gln1458Ter
NM_007297.3:c.4231C>T	NP_009228.2:p.Gln1411Ter
NM_007298.3:c.1060C>T	NP_009229.2:p.Gln354Ter
NM_007299.3:c.1060C>T	NP_009230.2:p.Gln354Ter
NM_007300.3:c.4435C>T	NP_009231.2:p.Gln1479Ter
NR_027676.1:n.4508C>T
NM_007294.4:c.4372C>T MANE Select	NP_009225.1:p.Gln1458Ter
NM_007297.4:c.4231C>T	NP_009228.2:p.Gln1411Ter
NM_007299.4:c.1060C>T	NP_009230.2:p.Gln354Ter
NM_007300.4:c.4435C>T	NP_009231.2:p.Gln1479Ter
NR_027676.2:n.4549C>T