Canonical Allele Identifier: CA10593290

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2842713
• ClinVar RCV Id: RCV003644523
• MyVariant Identifiers: chr17:g.41234562T>G (hg19) ; chr17:g.43082545T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082545T>G , CM000679.2:g.43082545T>G	GRCh38
NC_000017.10:g.41234562T>G , CM000679.1:g.41234562T>G	GRCh37
NC_000017.9:g.38488088T>G	NCBI36
NG_005905.2:g.135439A>C , LRG_292:g.135439A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4216A>C	ENSP00000417241.2:p.Lys1406Gln
ENST00000470026.6:c.4216A>C	ENSP00000419274.2:p.Lys1406Gln
ENST00000473961.6:c.4090A>C	ENSP00000420201.2:p.Lys1364Gln
ENST00000476777.6:c.4210A>C	ENSP00000417554.2:p.Lys1404Gln
ENST00000477152.6:c.4138A>C	ENSP00000419988.2:p.Lys1380Gln
ENST00000478531.6:c.904A>C	ENSP00000420412.2:p.Lys302Gln
ENST00000489037.2:c.4138A>C	ENSP00000420781.2:p.Lys1380Gln
ENST00000493919.6:c.766A>C	ENSP00000418819.2:p.Lys256Gln
ENST00000494123.6:c.4216A>C	ENSP00000419103.2:p.Lys1406Gln
ENST00000497488.2:c.3328A>C	ENSP00000418986.2:p.Lys1110Gln
ENST00000618469.2:c.4216A>C	ENSP00000478114.2:p.Lys1406Gln
ENST00000634433.2:c.4093A>C	ENSP00000489431.2:p.Lys1365Gln
ENST00000644379.2:c.4216A>C	ENSP00000496570.2:p.Lys1406Gln
ENST00000644555.2:c.766A>C	ENSP00000494614.2:p.Lys256Gln
ENST00000652672.2:c.4075A>C	ENSP00000498906.2:p.Lys1359Gln
ENST00000484087.6:c.781A>C	ENSP00000419481.2:p.Lys261Gln
ENST00000700182.1:c.826A>C	ENSP00000514849.1:p.Lys276Gln
ENST00000357654.9:c.4216A>C MANE Select	ENSP00000350283.3:p.Lys1406Gln
ENST00000471181.7:c.4216A>C	ENSP00000418960.2:p.Lys1406Gln
ENST00000644379.1:c.537A>C
ENST00000352993.7:c.790A>C	ENSP00000312236.5:p.Lys264Gln
ENST00000357654.7:c.4216A>C	ENSP00000350283.3:p.Lys1406Gln
ENST00000461221.5:c.*3999A>C	ENSP00000418548.1:n.*3999A>C
ENST00000461574.1:c.510A>C
ENST00000468300.5:c.907A>C	ENSP00000417148.1:p.Lys303Gln
ENST00000471181.6:c.4216A>C	ENSP00000418960.2:p.Lys1406Gln
ENST00000478531.5:c.904A>C	ENSP00000420412.1:p.Lys302Gln
ENST00000484087.5:c.529A>C	ENSP00000419481.1:p.Lys177Gln
ENST00000487825.5:c.532A>C	ENSP00000418212.1:p.Lys178Gln
ENST00000491747.6:c.907A>C	ENSP00000420705.2:p.Lys303Gln
ENST00000493795.5:c.4075A>C	ENSP00000418775.1:p.Lys1359Gln
ENST00000493919.5:c.766A>C	ENSP00000418819.1:p.Lys256Gln
ENST00000586385.5:c.5-18594A>C	ENSP00000465818.1:n.5-18594A>C
ENST00000591534.5:c.-43-8024A>C	ENSP00000467329.1:n.-43-8024A>C
ENST00000591849.5:c.-98-32355A>C	ENSP00000465347.1:n.-98-32355A>C
ENST00000621897.1:n.110A>C
NM_007294.3:c.4216A>C , LRG_292t1:c.4216A>C	NP_009225.1:p.Lys1406Gln
NM_007297.3:c.4075A>C	NP_009228.2:p.Lys1359Gln
NM_007298.3:c.907A>C	NP_009229.2:p.Lys303Gln
NM_007299.3:c.907A>C	NP_009230.2:p.Lys303Gln
NM_007300.3:c.4216A>C	NP_009231.2:p.Lys1406Gln
NR_027676.1:n.4352A>C
NM_007294.4:c.4216A>C MANE Select	NP_009225.1:p.Lys1406Gln
NM_007297.4:c.4075A>C	NP_009228.2:p.Lys1359Gln
NM_007299.4:c.907A>C	NP_009230.2:p.Lys303Gln
NM_007300.4:c.4216A>C	NP_009231.2:p.Lys1406Gln
NR_027676.2:n.4393A>C