Canonical Allele Identifier: CA002926

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55237
• ClinVar RCV Id: RCV000112363 ; RCV000479214 ; RCV000496357 ; RCV000509797
• dbSNP Id: rs80357229
• MyVariant Identifiers: chr17:g.41226414G>A (hg19) ; chr17:g.43074397G>A (hg38)
• PubMed: PMID:12920083 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074397G>A , CM000679.2:g.43074397G>A	GRCh38
NC_000017.10:g.41226414G>A , CM000679.1:g.41226414G>A	GRCh37
NC_000017.9:g.38479940G>A	NCBI36
NG_005905.2:g.143587C>T , LRG_292:g.143587C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4606C>T	ENSP00000417241.2:p.Gln1536Ter
ENST00000470026.6:c.4609C>T	ENSP00000419274.2:p.Gln1537Ter
ENST00000473961.6:c.4483C>T	ENSP00000420201.2:p.Gln1495Ter
ENST00000476777.6:c.4603C>T	ENSP00000417554.2:p.Gln1535Ter
ENST00000477152.6:c.4531C>T	ENSP00000419988.2:p.Gln1511Ter
ENST00000478531.6:c.1297C>T	ENSP00000420412.2:p.Gln433Ter
ENST00000489037.2:c.4531C>T	ENSP00000420781.2:p.Gln1511Ter
ENST00000493919.6:c.1159C>T	ENSP00000418819.2:p.Gln387Ter
ENST00000494123.6:c.4609C>T	ENSP00000419103.2:p.Gln1537Ter
ENST00000497488.2:c.3721C>T	ENSP00000418986.2:p.Gln1241Ter
ENST00000618469.2:c.4609C>T	ENSP00000478114.2:p.Gln1537Ter
ENST00000634433.2:c.4486C>T	ENSP00000489431.2:p.Gln1496Ter
ENST00000644379.2:c.4675C>T	ENSP00000496570.2:p.Gln1559Ter
ENST00000644555.2:c.1159C>T	ENSP00000494614.2:p.Gln387Ter
ENST00000652672.2:c.4468C>T	ENSP00000498906.2:p.Gln1490Ter
ENST00000484087.6:c.1171C>T	ENSP00000419481.2:p.Gln391Ter
ENST00000700182.1:c.1216C>T	ENSP00000514849.1:p.Gln406Ter
ENST00000357654.9:c.4609C>T MANE Select	ENSP00000350283.3:p.Gln1537Ter
ENST00000471181.7:c.4672C>T	ENSP00000418960.2:p.Gln1558Ter
ENST00000644379.1:c.996C>T
ENST00000352993.7:c.1183C>T	ENSP00000312236.5:p.Gln395Ter
ENST00000357654.7:c.4609C>T	ENSP00000350283.3:p.Gln1537Ter
ENST00000461221.5:c.*4392C>T	ENSP00000418548.1:n.*4392C>T
ENST00000468300.5:c.1297C>T	ENSP00000417148.1:p.Gln433Ter
ENST00000471181.6:c.4672C>T	ENSP00000418960.2:p.Gln1558Ter
ENST00000478531.5:c.1297C>T	ENSP00000420412.1:p.Gln433Ter
ENST00000484087.5:c.922C>T	ENSP00000419481.1:p.Gln308Ter
ENST00000491747.6:c.1297C>T	ENSP00000420705.2:p.Gln433Ter
ENST00000493795.5:c.4468C>T	ENSP00000418775.1:p.Gln1490Ter
ENST00000493919.5:c.1159C>T	ENSP00000418819.1:p.Gln387Ter
ENST00000586385.5:c.5-10446C>T	ENSP00000465818.1:n.5-10446C>T
ENST00000591534.5:c.82C>T	ENSP00000467329.1:p.Gln28Ter
ENST00000591849.5:c.-98-24207C>T	ENSP00000465347.1:n.-98-24207C>T
NM_007294.3:c.4609C>T , LRG_292t1:c.4609C>T	NP_009225.1:p.Gln1537Ter
NM_007297.3:c.4468C>T	NP_009228.2:p.Gln1490Ter
NM_007298.3:c.1297C>T	NP_009229.2:p.Gln433Ter
NM_007299.3:c.1297C>T	NP_009230.2:p.Gln433Ter
NM_007300.3:c.4672C>T	NP_009231.2:p.Gln1558Ter
NR_027676.1:n.4745C>T
NM_007294.4:c.4609C>T MANE Select	NP_009225.1:p.Gln1537Ter
NM_007297.4:c.4468C>T	NP_009228.2:p.Gln1490Ter
NM_007299.4:c.1297C>T	NP_009230.2:p.Gln433Ter
NM_007300.4:c.4672C>T	NP_009231.2:p.Gln1558Ter
NR_027676.2:n.4786C>T