Canonical Allele Identifier: CA10592736

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2576274
• ClinVar RCV Id: RCV003322333
• dbSNP Id: rs397509171
• MyVariant Identifiers: chr17:g.41228590G>C (hg19) ; chr17:g.43076573G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076573G>C , CM000679.2:g.43076573G>C	GRCh38
NC_000017.10:g.41228590G>C , CM000679.1:g.41228590G>C	GRCh37
NC_000017.9:g.38482116G>C	NCBI36
NG_005905.2:g.141411C>G , LRG_292:g.141411C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4396C>G	ENSP00000417241.2:p.Gln1466Glu
ENST00000470026.6:c.4399C>G	ENSP00000419274.2:p.Gln1467Glu
ENST00000473961.6:c.4273C>G	ENSP00000420201.2:p.Gln1425Glu
ENST00000476777.6:c.4393C>G	ENSP00000417554.2:p.Gln1465Glu
ENST00000477152.6:c.4321C>G	ENSP00000419988.2:p.Gln1441Glu
ENST00000478531.6:c.1087C>G	ENSP00000420412.2:p.Gln363Glu
ENST00000489037.2:c.4321C>G	ENSP00000420781.2:p.Gln1441Glu
ENST00000493919.6:c.949C>G	ENSP00000418819.2:p.Gln317Glu
ENST00000494123.6:c.4399C>G	ENSP00000419103.2:p.Gln1467Glu
ENST00000497488.2:c.3511C>G	ENSP00000418986.2:p.Gln1171Glu
ENST00000618469.2:c.4399C>G	ENSP00000478114.2:p.Gln1467Glu
ENST00000634433.2:c.4276C>G	ENSP00000489431.2:p.Gln1426Glu
ENST00000644379.2:c.4465C>G	ENSP00000496570.2:p.Gln1489Glu
ENST00000644555.2:c.949C>G	ENSP00000494614.2:p.Gln317Glu
ENST00000652672.2:c.4258C>G	ENSP00000498906.2:p.Gln1420Glu
ENST00000484087.6:c.961C>G	ENSP00000419481.2:p.Gln321Glu
ENST00000700182.1:c.1006C>G	ENSP00000514849.1:p.Gln336Glu
ENST00000357654.9:c.4399C>G MANE Select	ENSP00000350283.3:p.Gln1467Glu
ENST00000471181.7:c.4462C>G	ENSP00000418960.2:p.Gln1488Glu
ENST00000644379.1:c.786C>G
ENST00000352993.7:c.973C>G	ENSP00000312236.5:p.Gln325Glu
ENST00000357654.7:c.4399C>G	ENSP00000350283.3:p.Gln1467Glu
ENST00000461221.5:c.*4182C>G	ENSP00000418548.1:n.*4182C>G
ENST00000461574.1:c.690C>G
ENST00000468300.5:c.1087C>G	ENSP00000417148.1:p.Gln363Glu
ENST00000471181.6:c.4462C>G	ENSP00000418960.2:p.Gln1488Glu
ENST00000478531.5:c.1087C>G	ENSP00000420412.1:p.Gln363Glu
ENST00000484087.5:c.712C>G	ENSP00000419481.1:p.Gln238Glu
ENST00000487825.5:c.715C>G	ENSP00000418212.1:p.Gln239Glu
ENST00000491747.6:c.1087C>G	ENSP00000420705.2:p.Gln363Glu
ENST00000493795.5:c.4258C>G	ENSP00000418775.1:p.Gln1420Glu
ENST00000493919.5:c.949C>G	ENSP00000418819.1:p.Gln317Glu
ENST00000586385.5:c.5-12622C>G	ENSP00000465818.1:n.5-12622C>G
ENST00000591534.5:c.-43-2052C>G	ENSP00000467329.1:n.-43-2052C>G
ENST00000591849.5:c.-98-26383C>G	ENSP00000465347.1:n.-98-26383C>G
ENST00000621897.1:n.290C>G
NM_007294.3:c.4399C>G , LRG_292t1:c.4399C>G	NP_009225.1:p.Gln1467Glu
NM_007297.3:c.4258C>G	NP_009228.2:p.Gln1420Glu
NM_007298.3:c.1087C>G	NP_009229.2:p.Gln363Glu
NM_007299.3:c.1087C>G	NP_009230.2:p.Gln363Glu
NM_007300.3:c.4462C>G	NP_009231.2:p.Gln1488Glu
NR_027676.1:n.4535C>G
NM_007294.4:c.4399C>G MANE Select	NP_009225.1:p.Gln1467Glu
NM_007297.4:c.4258C>G	NP_009228.2:p.Gln1420Glu
NM_007299.4:c.1087C>G	NP_009230.2:p.Gln363Glu
NM_007300.4:c.4462C>G	NP_009231.2:p.Gln1488Glu
NR_027676.2:n.4576C>G