Canonical Allele Identifier: CA10591212

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 462662
• ClinVar RCV Id: RCV000536072 ; RCV001072422 ; RCV001724041 ; RCV002341301
• dbSNP Id: rs1426821558
• gnomAD v4: 17-43063359-T-C
• MyVariant Identifiers: chr17:g.41215376T>C (hg19) ; chr17:g.43063359T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063359T>C , CM000679.2:g.43063359T>C	GRCh38
NC_000017.10:g.41215376T>C , CM000679.1:g.41215376T>C	GRCh37
NC_000017.9:g.38468902T>C	NCBI36
NG_005905.2:g.154625A>G , LRG_292:g.154625A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5164A>G	ENSP00000417241.2:p.Ile1722Val
ENST00000470026.6:c.5167A>G	ENSP00000419274.2:p.Ile1723Val
ENST00000473961.6:c.5041A>G	ENSP00000420201.2:p.Ile1681Val
ENST00000476777.6:c.5161A>G	ENSP00000417554.2:p.Ile1721Val
ENST00000477152.6:c.5089A>G	ENSP00000419988.2:p.Ile1697Val
ENST00000478531.6:c.1855A>G	ENSP00000420412.2:p.Ile619Val
ENST00000489037.2:c.5089A>G	ENSP00000420781.2:p.Ile1697Val
ENST00000493919.6:c.1717A>G	ENSP00000418819.2:p.Ile573Val
ENST00000494123.6:c.5167A>G	ENSP00000419103.2:p.Ile1723Val
ENST00000497488.2:c.4279A>G	ENSP00000418986.2:p.Ile1427Val
ENST00000618469.2:c.5167A>G	ENSP00000478114.2:p.Ile1723Val
ENST00000634433.2:c.5044A>G	ENSP00000489431.2:p.Ile1682Val
ENST00000644379.2:c.5233A>G	ENSP00000496570.2:p.Ile1745Val
ENST00000644555.2:c.1717A>G	ENSP00000494614.2:p.Ile573Val
ENST00000652672.2:c.5026A>G	ENSP00000498906.2:p.Ile1676Val
ENST00000484087.6:c.1729A>G	ENSP00000419481.2:p.Ile577Val
ENST00000357654.9:c.5167A>G MANE Select	ENSP00000350283.3:p.Ile1723Val
ENST00000471181.7:c.5230A>G	ENSP00000418960.2:p.Ile1744Val
ENST00000644379.1:c.1554A>G
ENST00000352993.7:c.1741A>G	ENSP00000312236.5:p.Ile581Val
ENST00000357654.7:c.5167A>G	ENSP00000350283.3:p.Ile1723Val
ENST00000461221.5:c.*4950A>G	ENSP00000418548.1:n.*4950A>G
ENST00000468300.5:c.1855A>G	ENSP00000417148.1:p.Ile619Val
ENST00000471181.6:c.5230A>G	ENSP00000418960.2:p.Ile1744Val
ENST00000478531.5:c.1855A>G	ENSP00000420412.1:p.Ile619Val
ENST00000484087.5:c.1480A>G	ENSP00000419481.1:p.Ile494Val
ENST00000491747.6:c.1855A>G	ENSP00000420705.2:p.Ile619Val
ENST00000493795.5:c.5026A>G	ENSP00000418775.1:p.Ile1676Val
ENST00000586385.5:c.97A>G	ENSP00000465818.1:p.Ile33Val
ENST00000591534.5:c.640A>G	ENSP00000467329.1:p.Ile214Val
ENST00000591849.5:c.-98-13169A>G	ENSP00000465347.1:n.-98-13169A>G
NM_007294.3:c.5167A>G , LRG_292t1:c.5167A>G	NP_009225.1:p.Ile1723Val
NM_007297.3:c.5026A>G	NP_009228.2:p.Ile1676Val
NM_007298.3:c.1855A>G	NP_009229.2:p.Ile619Val
NM_007299.3:c.1855A>G	NP_009230.2:p.Ile619Val
NM_007300.3:c.5230A>G	NP_009231.2:p.Ile1744Val
NR_027676.1:n.5303A>G
NM_007294.4:c.5167A>G MANE Select	NP_009225.1:p.Ile1723Val
NM_007297.4:c.5026A>G	NP_009228.2:p.Ile1676Val
NM_007299.4:c.1855A>G	NP_009230.2:p.Ile619Val
NM_007300.4:c.5230A>G	NP_009231.2:p.Ile1744Val
NR_027676.2:n.5344A>G