Canonical Allele Identifier: CA500146871

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 462646
• ClinVar RCV Id: RCV000545400
• dbSNP Id: rs1171220106
• MyVariant Identifiers: chr17:g.41228621A>C (hg19) ; chr17:g.43076604A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076604A>C , CM000679.2:g.43076604A>C	GRCh38
NC_000017.10:g.41228621A>C , CM000679.1:g.41228621A>C	GRCh37
NC_000017.9:g.38482147A>C	NCBI36
NG_005905.2:g.141380T>G , LRG_292:g.141380T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4365T>G	ENSP00000417241.2:p.Thr1455=
ENST00000470026.6:c.4368T>G	ENSP00000419274.2:p.Thr1456=
ENST00000473961.6:c.4242T>G	ENSP00000420201.2:p.Thr1414=
ENST00000476777.6:c.4362T>G	ENSP00000417554.2:p.Thr1454=
ENST00000477152.6:c.4290T>G	ENSP00000419988.2:p.Thr1430=
ENST00000478531.6:c.1056T>G	ENSP00000420412.2:p.Thr352=
ENST00000489037.2:c.4290T>G	ENSP00000420781.2:p.Thr1430=
ENST00000493919.6:c.918T>G	ENSP00000418819.2:p.Thr306=
ENST00000494123.6:c.4368T>G	ENSP00000419103.2:p.Thr1456=
ENST00000497488.2:c.3480T>G	ENSP00000418986.2:p.Thr1160=
ENST00000618469.2:c.4368T>G	ENSP00000478114.2:p.Thr1456=
ENST00000634433.2:c.4245T>G	ENSP00000489431.2:p.Thr1415=
ENST00000644379.2:c.4434T>G	ENSP00000496570.2:p.Thr1478=
ENST00000644555.2:c.918T>G	ENSP00000494614.2:p.Thr306=
ENST00000652672.2:c.4227T>G	ENSP00000498906.2:p.Thr1409=
ENST00000484087.6:c.930T>G	ENSP00000419481.2:p.Thr310=
ENST00000700182.1:c.975T>G	ENSP00000514849.1:p.Thr325=
ENST00000357654.9:c.4368T>G MANE Select	ENSP00000350283.3:p.Thr1456=
ENST00000471181.7:c.4431T>G	ENSP00000418960.2:p.Thr1477=
ENST00000644379.1:c.755T>G
ENST00000352993.7:c.942T>G	ENSP00000312236.5:p.Thr314=
ENST00000357654.7:c.4368T>G	ENSP00000350283.3:p.Thr1456=
ENST00000461221.5:c.*4151T>G	ENSP00000418548.1:n.*4151T>G
ENST00000461574.1:c.659T>G
ENST00000468300.5:c.1056T>G	ENSP00000417148.1:p.Thr352=
ENST00000471181.6:c.4431T>G	ENSP00000418960.2:p.Thr1477=
ENST00000478531.5:c.1056T>G	ENSP00000420412.1:p.Thr352=
ENST00000484087.5:c.681T>G	ENSP00000419481.1:p.Thr227=
ENST00000487825.5:c.684T>G	ENSP00000418212.1:p.Thr228=
ENST00000491747.6:c.1056T>G	ENSP00000420705.2:p.Thr352=
ENST00000493795.5:c.4227T>G	ENSP00000418775.1:p.Thr1409=
ENST00000493919.5:c.918T>G	ENSP00000418819.1:p.Thr306=
ENST00000586385.5:c.5-12653T>G	ENSP00000465818.1:n.5-12653T>G
ENST00000591534.5:c.-43-2083T>G	ENSP00000467329.1:n.-43-2083T>G
ENST00000591849.5:c.-98-26414T>G	ENSP00000465347.1:n.-98-26414T>G
ENST00000621897.1:n.259T>G
NM_007294.3:c.4368T>G , LRG_292t1:c.4368T>G	NP_009225.1:p.Thr1456=
NM_007297.3:c.4227T>G	NP_009228.2:p.Thr1409=
NM_007298.3:c.1056T>G	NP_009229.2:p.Thr352=
NM_007299.3:c.1056T>G	NP_009230.2:p.Thr352=
NM_007300.3:c.4431T>G	NP_009231.2:p.Thr1477=
NR_027676.1:n.4504T>G
NM_007294.4:c.4368T>G MANE Select	NP_009225.1:p.Thr1456=
NM_007297.4:c.4227T>G	NP_009228.2:p.Thr1409=
NM_007299.4:c.1056T>G	NP_009230.2:p.Thr352=
NM_007300.4:c.4431T>G	NP_009231.2:p.Thr1477=
NR_027676.2:n.4545T>G