Canonical Allele Identifier: CA10592777

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2009627
• ClinVar RCV Id: RCV002842551
• dbSNP Id: rs2154071694
• MyVariant Identifiers: chr17:g.41228608T>C (hg19) ; chr17:g.43076591T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076591T>C , CM000679.2:g.43076591T>C	GRCh38
NC_000017.10:g.41228608T>C , CM000679.1:g.41228608T>C	GRCh37
NC_000017.9:g.38482134T>C	NCBI36
NG_005905.2:g.141393A>G , LRG_292:g.141393A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4378A>G	ENSP00000417241.2:p.Ser1460Gly
ENST00000470026.6:c.4381A>G	ENSP00000419274.2:p.Ser1461Gly
ENST00000473961.6:c.4255A>G	ENSP00000420201.2:p.Ser1419Gly
ENST00000476777.6:c.4375A>G	ENSP00000417554.2:p.Ser1459Gly
ENST00000477152.6:c.4303A>G	ENSP00000419988.2:p.Ser1435Gly
ENST00000478531.6:c.1069A>G	ENSP00000420412.2:p.Ser357Gly
ENST00000489037.2:c.4303A>G	ENSP00000420781.2:p.Ser1435Gly
ENST00000493919.6:c.931A>G	ENSP00000418819.2:p.Ser311Gly
ENST00000494123.6:c.4381A>G	ENSP00000419103.2:p.Ser1461Gly
ENST00000497488.2:c.3493A>G	ENSP00000418986.2:p.Ser1165Gly
ENST00000618469.2:c.4381A>G	ENSP00000478114.2:p.Ser1461Gly
ENST00000634433.2:c.4258A>G	ENSP00000489431.2:p.Ser1420Gly
ENST00000644379.2:c.4447A>G	ENSP00000496570.2:p.Ser1483Gly
ENST00000644555.2:c.931A>G	ENSP00000494614.2:p.Ser311Gly
ENST00000652672.2:c.4240A>G	ENSP00000498906.2:p.Ser1414Gly
ENST00000484087.6:c.943A>G	ENSP00000419481.2:p.Ser315Gly
ENST00000700182.1:c.988A>G	ENSP00000514849.1:p.Ser330Gly
ENST00000357654.9:c.4381A>G MANE Select	ENSP00000350283.3:p.Ser1461Gly
ENST00000471181.7:c.4444A>G	ENSP00000418960.2:p.Ser1482Gly
ENST00000644379.1:c.768A>G
ENST00000352993.7:c.955A>G	ENSP00000312236.5:p.Ser319Gly
ENST00000357654.7:c.4381A>G	ENSP00000350283.3:p.Ser1461Gly
ENST00000461221.5:c.*4164A>G	ENSP00000418548.1:n.*4164A>G
ENST00000461574.1:c.672A>G
ENST00000468300.5:c.1069A>G	ENSP00000417148.1:p.Ser357Gly
ENST00000471181.6:c.4444A>G	ENSP00000418960.2:p.Ser1482Gly
ENST00000478531.5:c.1069A>G	ENSP00000420412.1:p.Ser357Gly
ENST00000484087.5:c.694A>G	ENSP00000419481.1:p.Ser232Gly
ENST00000487825.5:c.697A>G	ENSP00000418212.1:p.Ser233Gly
ENST00000491747.6:c.1069A>G	ENSP00000420705.2:p.Ser357Gly
ENST00000493795.5:c.4240A>G	ENSP00000418775.1:p.Ser1414Gly
ENST00000493919.5:c.931A>G	ENSP00000418819.1:p.Ser311Gly
ENST00000586385.5:c.5-12640A>G	ENSP00000465818.1:n.5-12640A>G
ENST00000591534.5:c.-43-2070A>G	ENSP00000467329.1:n.-43-2070A>G
ENST00000591849.5:c.-98-26401A>G	ENSP00000465347.1:n.-98-26401A>G
ENST00000621897.1:n.272A>G
NM_007294.3:c.4381A>G , LRG_292t1:c.4381A>G	NP_009225.1:p.Ser1461Gly
NM_007297.3:c.4240A>G	NP_009228.2:p.Ser1414Gly
NM_007298.3:c.1069A>G	NP_009229.2:p.Ser357Gly
NM_007299.3:c.1069A>G	NP_009230.2:p.Ser357Gly
NM_007300.3:c.4444A>G	NP_009231.2:p.Ser1482Gly
NR_027676.1:n.4517A>G
NM_007294.4:c.4381A>G MANE Select	NP_009225.1:p.Ser1461Gly
NM_007297.4:c.4240A>G	NP_009228.2:p.Ser1414Gly
NM_007299.4:c.1069A>G	NP_009230.2:p.Ser357Gly
NM_007300.4:c.4444A>G	NP_009231.2:p.Ser1482Gly
NR_027676.2:n.4558A>G