Canonical Allele Identifier: CA10591499

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 867533
• ClinVar RCV Id: RCV001076238
• dbSNP Id: rs777828258
• MyVariant Identifiers: chr17:g.41219689T>A (hg19) ; chr17:g.43067672T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067672T>A , CM000679.2:g.43067672T>A	GRCh38
NC_000017.10:g.41219689T>A , CM000679.1:g.41219689T>A	GRCh37
NC_000017.9:g.38473215T>A	NCBI36
NG_005905.2:g.150312A>T , LRG_292:g.150312A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5007A>T	ENSP00000417241.2:p.Arg1669Ser
ENST00000470026.6:c.5010A>T	ENSP00000419274.2:p.Arg1670Ser
ENST00000473961.6:c.4884A>T	ENSP00000420201.2:p.Arg1628Ser
ENST00000476777.6:c.5004A>T	ENSP00000417554.2:p.Arg1668Ser
ENST00000477152.6:c.4932A>T	ENSP00000419988.2:p.Arg1644Ser
ENST00000478531.6:c.1698A>T	ENSP00000420412.2:p.Arg566Ser
ENST00000489037.2:c.4932A>T	ENSP00000420781.2:p.Arg1644Ser
ENST00000493919.6:c.1560A>T	ENSP00000418819.2:p.Arg520Ser
ENST00000494123.6:c.5010A>T	ENSP00000419103.2:p.Arg1670Ser
ENST00000497488.2:c.4122A>T	ENSP00000418986.2:p.Arg1374Ser
ENST00000618469.2:c.5010A>T	ENSP00000478114.2:p.Arg1670Ser
ENST00000634433.2:c.4887A>T	ENSP00000489431.2:p.Arg1629Ser
ENST00000644379.2:c.5076A>T	ENSP00000496570.2:p.Arg1692Ser
ENST00000644555.2:c.1560A>T	ENSP00000494614.2:p.Arg520Ser
ENST00000652672.2:c.4869A>T	ENSP00000498906.2:p.Arg1623Ser
ENST00000484087.6:c.1572A>T	ENSP00000419481.2:p.Arg524Ser
ENST00000357654.9:c.5010A>T MANE Select	ENSP00000350283.3:p.Arg1670Ser
ENST00000471181.7:c.5073A>T	ENSP00000418960.2:p.Arg1691Ser
ENST00000644379.1:c.1397A>T
ENST00000352993.7:c.1584A>T	ENSP00000312236.5:p.Arg528Ser
ENST00000357654.7:c.5010A>T	ENSP00000350283.3:p.Arg1670Ser
ENST00000461221.5:c.*4793A>T	ENSP00000418548.1:n.*4793A>T
ENST00000468300.5:c.1698A>T	ENSP00000417148.1:p.Arg566Ser
ENST00000471181.6:c.5073A>T	ENSP00000418960.2:p.Arg1691Ser
ENST00000472490.1:n.163A>T
ENST00000478531.5:c.1698A>T	ENSP00000420412.1:p.Arg566Ser
ENST00000484087.5:c.1323A>T	ENSP00000419481.1:p.Arg441Ser
ENST00000491747.6:c.1698A>T	ENSP00000420705.2:p.Arg566Ser
ENST00000493795.5:c.4869A>T	ENSP00000418775.1:p.Arg1623Ser
ENST00000493919.5:c.1560A>T	ENSP00000418819.1:p.Arg520Ser
ENST00000586385.5:c.5-3721A>T	ENSP00000465818.1:n.5-3721A>T
ENST00000591534.5:c.483A>T	ENSP00000467329.1:p.Arg161Ser
ENST00000591849.5:c.-98-17482A>T	ENSP00000465347.1:n.-98-17482A>T
NM_007294.3:c.5010A>T , LRG_292t1:c.5010A>T	NP_009225.1:p.Arg1670Ser
NM_007297.3:c.4869A>T	NP_009228.2:p.Arg1623Ser
NM_007298.3:c.1698A>T	NP_009229.2:p.Arg566Ser
NM_007299.3:c.1698A>T	NP_009230.2:p.Arg566Ser
NM_007300.3:c.5073A>T	NP_009231.2:p.Arg1691Ser
NR_027676.1:n.5146A>T
NM_007294.4:c.5010A>T MANE Select	NP_009225.1:p.Arg1670Ser
NM_007297.4:c.4869A>T	NP_009228.2:p.Arg1623Ser
NM_007299.4:c.1698A>T	NP_009230.2:p.Arg566Ser
NM_007300.4:c.5073A>T	NP_009231.2:p.Arg1691Ser
NR_027676.2:n.5187A>T