Canonical Allele Identifier: CA10590608

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 865479
• ClinVar RCV Id: RCV001072906
• dbSNP Id: rs2050990955
• MyVariant Identifiers: chr17:g.41199706A>T (hg19) ; chr17:g.43047689A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047689A>T , CM000679.2:g.43047689A>T	GRCh38
NC_000017.10:g.41199706A>T , CM000679.1:g.41199706A>T	GRCh37
NC_000017.9:g.38453232A>T	NCBI36
NG_005905.2:g.170295T>A , LRG_292:g.170295T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5418T>A	ENSP00000417241.2:p.Ile1806=
ENST00000470026.6:c.5421T>A	ENSP00000419274.2:p.Ile1807=
ENST00000473961.6:c.5295T>A	ENSP00000420201.2:p.Ile1765=
ENST00000476777.6:c.5415T>A	ENSP00000417554.2:p.Ile1805=
ENST00000477152.6:c.5343T>A	ENSP00000419988.2:p.Ile1781=
ENST00000478531.6:c.2109T>A	ENSP00000420412.2:p.Ile703=
ENST00000489037.2:c.5343T>A	ENSP00000420781.2:p.Ile1781=
ENST00000493919.6:c.1971T>A	ENSP00000418819.2:p.Ile657=
ENST00000494123.6:c.5421T>A	ENSP00000419103.2:p.Ile1807=
ENST00000497488.2:c.4533T>A	ENSP00000418986.2:p.Ile1511=
ENST00000618469.2:c.5421T>A	ENSP00000478114.2:p.Ile1807=
ENST00000634433.2:c.5298T>A	ENSP00000489431.2:p.Ile1766=
ENST00000644379.2:c.5487T>A	ENSP00000496570.2:p.Ile1829=
ENST00000644555.2:c.1971T>A	ENSP00000494614.2:p.Ile657=
ENST00000652672.2:c.5280T>A	ENSP00000498906.2:p.Ile1760=
ENST00000484087.6:c.1983T>A	ENSP00000419481.2:p.Ile661=
ENST00000700081.1:n.1304T>A
ENST00000700082.1:n.785T>A
ENST00000357654.9:c.5421T>A MANE Select	ENSP00000350283.3:p.Ile1807=
ENST00000471181.7:c.5484T>A	ENSP00000418960.2:p.Ile1828=
ENST00000644379.1:c.1808T>A
ENST00000352993.7:c.1995T>A	ENSP00000312236.5:p.Ile665=
ENST00000357654.7:c.5421T>A	ENSP00000350283.3:p.Ile1807=
ENST00000461221.5:c.*5204T>A	ENSP00000418548.1:n.*5204T>A
ENST00000468300.5:c.2035T>A	ENSP00000417148.1:p.Cys679Ser
ENST00000471181.6:c.5484T>A	ENSP00000418960.2:p.Ile1828=
ENST00000491747.6:c.2109T>A	ENSP00000420705.2:p.Ile703=
ENST00000493795.5:c.5280T>A	ENSP00000418775.1:p.Ile1760=
ENST00000586385.5:c.351T>A	ENSP00000465818.1:p.Ile117=
ENST00000591534.5:c.894T>A	ENSP00000467329.1:p.Ile298=
ENST00000591849.5:c.120T>A	ENSP00000465347.1:p.Ile40=
NM_007294.3:c.5421T>A , LRG_292t1:c.5421T>A	NP_009225.1:p.Ile1807=
NM_007297.3:c.5280T>A	NP_009228.2:p.Ile1760=
NM_007298.3:c.2109T>A	NP_009229.2:p.Ile703=
NM_007299.3:c.2035T>A	NP_009230.2:p.Cys679Ser
NM_007300.3:c.5484T>A	NP_009231.2:p.Ile1828=
NR_027676.1:n.5557T>A
NM_007294.4:c.5421T>A MANE Select	NP_009225.1:p.Ile1807=
NM_007297.4:c.5280T>A	NP_009228.2:p.Ile1760=
NM_007299.4:c.2035T>A	NP_009230.2:p.Cys679Ser
NM_007300.4:c.5484T>A	NP_009231.2:p.Ile1828=
NR_027676.2:n.5598T>A