Canonical Allele Identifier: CA003073

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55311
• ClinVar RCV Id: RCV000112420 ; RCV000129569 ; RCV000496337
• dbSNP Id: rs200432771
• MyVariant Identifiers: chr17:g.41223028C>A (hg19) ; chr17:g.43071011C>A (hg38)
• PubMed: PMID:22970155

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071011C>A , CM000679.2:g.43071011C>A	GRCh38
NC_000017.10:g.41223028C>A , CM000679.1:g.41223028C>A	GRCh37
NC_000017.9:g.38476554C>A	NCBI36
NG_005905.2:g.146973G>T , LRG_292:g.146973G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4900G>T	ENSP00000417241.2:p.Glu1634Ter
ENST00000470026.6:c.4903G>T	ENSP00000419274.2:p.Glu1635Ter
ENST00000473961.6:c.4777G>T	ENSP00000420201.2:p.Glu1593Ter
ENST00000476777.6:c.4897G>T	ENSP00000417554.2:p.Glu1633Ter
ENST00000477152.6:c.4825G>T	ENSP00000419988.2:p.Glu1609Ter
ENST00000478531.6:c.1591G>T	ENSP00000420412.2:p.Glu531Ter
ENST00000489037.2:c.4825G>T	ENSP00000420781.2:p.Glu1609Ter
ENST00000493919.6:c.1453G>T	ENSP00000418819.2:p.Glu485Ter
ENST00000494123.6:c.4903G>T	ENSP00000419103.2:p.Glu1635Ter
ENST00000497488.2:c.4015G>T	ENSP00000418986.2:p.Glu1339Ter
ENST00000618469.2:c.4903G>T	ENSP00000478114.2:p.Glu1635Ter
ENST00000634433.2:c.4780G>T	ENSP00000489431.2:p.Glu1594Ter
ENST00000644379.2:c.4969G>T	ENSP00000496570.2:p.Glu1657Ter
ENST00000644555.2:c.1453G>T	ENSP00000494614.2:p.Glu485Ter
ENST00000652672.2:c.4762G>T	ENSP00000498906.2:p.Glu1588Ter
ENST00000484087.6:c.1465G>T	ENSP00000419481.2:p.Glu489Ter
ENST00000700182.1:c.1510G>T	ENSP00000514849.1:p.Glu504Ter
ENST00000357654.9:c.4903G>T MANE Select	ENSP00000350283.3:p.Glu1635Ter
ENST00000471181.7:c.4966G>T	ENSP00000418960.2:p.Glu1656Ter
ENST00000644379.1:c.1290G>T
ENST00000352993.7:c.1477G>T	ENSP00000312236.5:p.Glu493Ter
ENST00000357654.7:c.4903G>T	ENSP00000350283.3:p.Glu1635Ter
ENST00000461221.5:c.*4686G>T	ENSP00000418548.1:n.*4686G>T
ENST00000468300.5:c.1591G>T	ENSP00000417148.1:p.Glu531Ter
ENST00000471181.6:c.4966G>T	ENSP00000418960.2:p.Glu1656Ter
ENST00000472490.1:n.56G>T
ENST00000478531.5:c.1591G>T	ENSP00000420412.1:p.Glu531Ter
ENST00000484087.5:c.1216G>T	ENSP00000419481.1:p.Glu406Ter
ENST00000491747.6:c.1591G>T	ENSP00000420705.2:p.Glu531Ter
ENST00000493795.5:c.4762G>T	ENSP00000418775.1:p.Glu1588Ter
ENST00000493919.5:c.1453G>T	ENSP00000418819.1:p.Glu485Ter
ENST00000586385.5:c.5-7060G>T	ENSP00000465818.1:n.5-7060G>T
ENST00000591534.5:c.376G>T	ENSP00000467329.1:p.Glu126Ter
ENST00000591849.5:c.-98-20821G>T	ENSP00000465347.1:n.-98-20821G>T
NM_007294.3:c.4903G>T , LRG_292t1:c.4903G>T	NP_009225.1:p.Glu1635Ter
NM_007297.3:c.4762G>T	NP_009228.2:p.Glu1588Ter
NM_007298.3:c.1591G>T	NP_009229.2:p.Glu531Ter
NM_007299.3:c.1591G>T	NP_009230.2:p.Glu531Ter
NM_007300.3:c.4966G>T	NP_009231.2:p.Glu1656Ter
NR_027676.1:n.5039G>T
NM_007294.4:c.4903G>T MANE Select	NP_009225.1:p.Glu1635Ter
NM_007297.4:c.4762G>T	NP_009228.2:p.Glu1588Ter
NM_007299.4:c.1591G>T	NP_009230.2:p.Glu531Ter
NM_007300.4:c.4966G>T	NP_009231.2:p.Glu1656Ter
NR_027676.2:n.5080G>T