Canonical Allele Identifier: CA10591505

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865526
• ClinVar RCV Id: RCV001072964 ; RCV001190558
• dbSNP Id: rs1057523976
• MyVariant Identifiers: chr17:g.41219691T>C (hg19) ; chr17:g.43067674T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067674T>C , CM000679.2:g.43067674T>C	GRCh38
NC_000017.10:g.41219691T>C , CM000679.1:g.41219691T>C	GRCh37
NC_000017.9:g.38473217T>C	NCBI36
NG_005905.2:g.150310A>G , LRG_292:g.150310A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5005A>G	ENSP00000417241.2:p.Arg1669Gly
ENST00000470026.6:c.5008A>G	ENSP00000419274.2:p.Arg1670Gly
ENST00000473961.6:c.4882A>G	ENSP00000420201.2:p.Arg1628Gly
ENST00000476777.6:c.5002A>G	ENSP00000417554.2:p.Arg1668Gly
ENST00000477152.6:c.4930A>G	ENSP00000419988.2:p.Arg1644Gly
ENST00000478531.6:c.1696A>G	ENSP00000420412.2:p.Arg566Gly
ENST00000489037.2:c.4930A>G	ENSP00000420781.2:p.Arg1644Gly
ENST00000493919.6:c.1558A>G	ENSP00000418819.2:p.Arg520Gly
ENST00000494123.6:c.5008A>G	ENSP00000419103.2:p.Arg1670Gly
ENST00000497488.2:c.4120A>G	ENSP00000418986.2:p.Arg1374Gly
ENST00000618469.2:c.5008A>G	ENSP00000478114.2:p.Arg1670Gly
ENST00000634433.2:c.4885A>G	ENSP00000489431.2:p.Arg1629Gly
ENST00000644379.2:c.5074A>G	ENSP00000496570.2:p.Arg1692Gly
ENST00000644555.2:c.1558A>G	ENSP00000494614.2:p.Arg520Gly
ENST00000652672.2:c.4867A>G	ENSP00000498906.2:p.Arg1623Gly
ENST00000484087.6:c.1570A>G	ENSP00000419481.2:p.Arg524Gly
ENST00000357654.9:c.5008A>G MANE Select	ENSP00000350283.3:p.Arg1670Gly
ENST00000471181.7:c.5071A>G	ENSP00000418960.2:p.Arg1691Gly
ENST00000644379.1:c.1395A>G
ENST00000352993.7:c.1582A>G	ENSP00000312236.5:p.Arg528Gly
ENST00000357654.7:c.5008A>G	ENSP00000350283.3:p.Arg1670Gly
ENST00000461221.5:c.*4791A>G	ENSP00000418548.1:n.*4791A>G
ENST00000468300.5:c.1696A>G	ENSP00000417148.1:p.Arg566Gly
ENST00000471181.6:c.5071A>G	ENSP00000418960.2:p.Arg1691Gly
ENST00000472490.1:n.161A>G
ENST00000478531.5:c.1696A>G	ENSP00000420412.1:p.Arg566Gly
ENST00000484087.5:c.1321A>G	ENSP00000419481.1:p.Arg441Gly
ENST00000491747.6:c.1696A>G	ENSP00000420705.2:p.Arg566Gly
ENST00000493795.5:c.4867A>G	ENSP00000418775.1:p.Arg1623Gly
ENST00000493919.5:c.1558A>G	ENSP00000418819.1:p.Arg520Gly
ENST00000586385.5:c.5-3723A>G	ENSP00000465818.1:n.5-3723A>G
ENST00000591534.5:c.481A>G	ENSP00000467329.1:p.Arg161Gly
ENST00000591849.5:c.-98-17484A>G	ENSP00000465347.1:n.-98-17484A>G
NM_007294.3:c.5008A>G , LRG_292t1:c.5008A>G	NP_009225.1:p.Arg1670Gly
NM_007297.3:c.4867A>G	NP_009228.2:p.Arg1623Gly
NM_007298.3:c.1696A>G	NP_009229.2:p.Arg566Gly
NM_007299.3:c.1696A>G	NP_009230.2:p.Arg566Gly
NM_007300.3:c.5071A>G	NP_009231.2:p.Arg1691Gly
NR_027676.1:n.5144A>G
NM_007294.4:c.5008A>G MANE Select	NP_009225.1:p.Arg1670Gly
NM_007297.4:c.4867A>G	NP_009228.2:p.Arg1623Gly
NM_007299.4:c.1696A>G	NP_009230.2:p.Arg566Gly
NM_007300.4:c.5071A>G	NP_009231.2:p.Arg1691Gly
NR_027676.2:n.5185A>G