Canonical Allele Identifier: CA10592740

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1375849
• ClinVar RCV Id: RCV001902538
• dbSNP Id: rs2154069294
• MyVariant Identifiers: chr17:g.41228592C>A (hg19) ; chr17:g.43076575C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076575C>A , CM000679.2:g.43076575C>A	GRCh38
NC_000017.10:g.41228592C>A , CM000679.1:g.41228592C>A	GRCh37
NC_000017.9:g.38482118C>A	NCBI36
NG_005905.2:g.141409G>T , LRG_292:g.141409G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4394G>T	ENSP00000417241.2:p.Ser1465Ile
ENST00000470026.6:c.4397G>T	ENSP00000419274.2:p.Ser1466Ile
ENST00000473961.6:c.4271G>T	ENSP00000420201.2:p.Ser1424Ile
ENST00000476777.6:c.4391G>T	ENSP00000417554.2:p.Ser1464Ile
ENST00000477152.6:c.4319G>T	ENSP00000419988.2:p.Ser1440Ile
ENST00000478531.6:c.1085G>T	ENSP00000420412.2:p.Ser362Ile
ENST00000489037.2:c.4319G>T	ENSP00000420781.2:p.Ser1440Ile
ENST00000493919.6:c.947G>T	ENSP00000418819.2:p.Ser316Ile
ENST00000494123.6:c.4397G>T	ENSP00000419103.2:p.Ser1466Ile
ENST00000497488.2:c.3509G>T	ENSP00000418986.2:p.Ser1170Ile
ENST00000618469.2:c.4397G>T	ENSP00000478114.2:p.Ser1466Ile
ENST00000634433.2:c.4274G>T	ENSP00000489431.2:p.Ser1425Ile
ENST00000644379.2:c.4463G>T	ENSP00000496570.2:p.Ser1488Ile
ENST00000644555.2:c.947G>T	ENSP00000494614.2:p.Ser316Ile
ENST00000652672.2:c.4256G>T	ENSP00000498906.2:p.Ser1419Ile
ENST00000484087.6:c.959G>T	ENSP00000419481.2:p.Ser320Ile
ENST00000700182.1:c.1004G>T	ENSP00000514849.1:p.Ser335Ile
ENST00000357654.9:c.4397G>T MANE Select	ENSP00000350283.3:p.Ser1466Ile
ENST00000471181.7:c.4460G>T	ENSP00000418960.2:p.Ser1487Ile
ENST00000644379.1:c.784G>T
ENST00000352993.7:c.971G>T	ENSP00000312236.5:p.Ser324Ile
ENST00000357654.7:c.4397G>T	ENSP00000350283.3:p.Ser1466Ile
ENST00000461221.5:c.*4180G>T	ENSP00000418548.1:n.*4180G>T
ENST00000461574.1:c.688G>T
ENST00000468300.5:c.1085G>T	ENSP00000417148.1:p.Ser362Ile
ENST00000471181.6:c.4460G>T	ENSP00000418960.2:p.Ser1487Ile
ENST00000478531.5:c.1085G>T	ENSP00000420412.1:p.Ser362Ile
ENST00000484087.5:c.710G>T	ENSP00000419481.1:p.Ser237Ile
ENST00000487825.5:c.713G>T	ENSP00000418212.1:p.Ser238Ile
ENST00000491747.6:c.1085G>T	ENSP00000420705.2:p.Ser362Ile
ENST00000493795.5:c.4256G>T	ENSP00000418775.1:p.Ser1419Ile
ENST00000493919.5:c.947G>T	ENSP00000418819.1:p.Ser316Ile
ENST00000586385.5:c.5-12624G>T	ENSP00000465818.1:n.5-12624G>T
ENST00000591534.5:c.-43-2054G>T	ENSP00000467329.1:n.-43-2054G>T
ENST00000591849.5:c.-98-26385G>T	ENSP00000465347.1:n.-98-26385G>T
ENST00000621897.1:n.288G>T
NM_007294.3:c.4397G>T , LRG_292t1:c.4397G>T	NP_009225.1:p.Ser1466Ile
NM_007297.3:c.4256G>T	NP_009228.2:p.Ser1419Ile
NM_007298.3:c.1085G>T	NP_009229.2:p.Ser362Ile
NM_007299.3:c.1085G>T	NP_009230.2:p.Ser362Ile
NM_007300.3:c.4460G>T	NP_009231.2:p.Ser1487Ile
NR_027676.1:n.4533G>T
NM_007294.4:c.4397G>T MANE Select	NP_009225.1:p.Ser1466Ile
NM_007297.4:c.4256G>T	NP_009228.2:p.Ser1419Ile
NM_007299.4:c.1085G>T	NP_009230.2:p.Ser362Ile
NM_007300.4:c.4460G>T	NP_009231.2:p.Ser1487Ile
NR_027676.2:n.4574G>T