Canonical Allele Identifier: CA10580678

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 231499
• ClinVar RCV Id: RCV000218218 ; RCV000707559
• dbSNP Id: rs876659193
• MyVariant Identifiers: chr17:g.41246409T>G (hg19) ; chr17:g.43094392T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094392T>G , CM000679.2:g.43094392T>G	GRCh38
NC_000017.10:g.41246409T>G , CM000679.1:g.41246409T>G	GRCh37
NC_000017.9:g.38499935T>G	NCBI36
NG_005905.2:g.123592A>C , LRG_292:g.123592A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1203A>C
ENST00000461574.2:c.1139A>C	ENSP00000417241.2:p.Gln380Pro
ENST00000470026.6:c.1139A>C	ENSP00000419274.2:p.Gln380Pro
ENST00000473961.6:c.1013A>C	ENSP00000420201.2:p.Gln338Pro
ENST00000476777.6:c.1136A>C	ENSP00000417554.2:p.Gln379Pro
ENST00000477152.6:c.1061A>C	ENSP00000419988.2:p.Gln354Pro
ENST00000478531.6:c.784+352A>C	ENSP00000420412.2:n.784+352A>C
ENST00000489037.2:c.1061A>C	ENSP00000420781.2:p.Gln354Pro
ENST00000493919.6:c.646+352A>C	ENSP00000418819.2:n.646+352A>C
ENST00000494123.6:c.1139A>C	ENSP00000419103.2:p.Gln380Pro
ENST00000497488.2:c.251A>C	ENSP00000418986.2:p.Gln84Pro
ENST00000618469.2:c.1139A>C	ENSP00000478114.2:p.Gln380Pro
ENST00000634433.2:c.1016A>C	ENSP00000489431.2:p.Gln339Pro
ENST00000644379.2:c.1139A>C	ENSP00000496570.2:p.Gln380Pro
ENST00000644555.2:c.646+352A>C	ENSP00000494614.2:n.646+352A>C
ENST00000652672.2:c.998A>C	ENSP00000498906.2:p.Gln333Pro
ENST00000484087.6:c.664+352A>C	ENSP00000419481.2:n.664+352A>C
ENST00000700182.1:c.706+352A>C	ENSP00000514849.1:n.706+352A>C
ENST00000700183.1:c.*1147A>C	ENSP00000514850.1:n.*1147A>C
ENST00000357654.9:c.1139A>C MANE Select	ENSP00000350283.3:p.Gln380Pro
ENST00000471181.7:c.1139A>C	ENSP00000418960.2:p.Gln380Pro
ENST00000652672.1:c.998A>C	ENSP00000498906.1:p.Gln333Pro
ENST00000352993.7:c.670+1454A>C	ENSP00000312236.5:n.670+1454A>C
ENST00000354071.7:c.1139A>C	ENSP00000326002.7:p.Gln380Pro
ENST00000357654.7:c.1139A>C	ENSP00000350283.3:p.Gln380Pro
ENST00000412061.3:c.490A>C
ENST00000461221.5:c.*922A>C	ENSP00000418548.1:n.*922A>C
ENST00000468300.5:c.787+352A>C	ENSP00000417148.1:n.787+352A>C
ENST00000470026.5:c.1139A>C	ENSP00000419274.1:p.Gln380Pro
ENST00000471181.6:c.1139A>C	ENSP00000418960.2:p.Gln380Pro
ENST00000473961.5:c.736A>C
ENST00000477152.5:c.1061A>C	ENSP00000419988.1:p.Gln354Pro
ENST00000478531.5:c.784+352A>C	ENSP00000420412.1:n.784+352A>C
ENST00000484087.5:c.409+352A>C	ENSP00000419481.1:n.409+352A>C
ENST00000487825.5:c.412+352A>C	ENSP00000418212.1:n.412+352A>C
ENST00000491747.6:c.787+352A>C	ENSP00000420705.2:n.787+352A>C
ENST00000492859.5:c.*1075A>C	ENSP00000420253.1:n.*1075A>C
ENST00000493795.5:c.998A>C	ENSP00000418775.1:p.Gln333Pro
ENST00000493919.5:c.646+352A>C	ENSP00000418819.1:n.646+352A>C
ENST00000494123.5:c.1139A>C	ENSP00000419103.1:p.Gln380Pro
ENST00000497488.1:c.251A>C	ENSP00000418986.1:p.Gln84Pro
ENST00000586385.5:c.5-30441A>C	ENSP00000465818.1:n.5-30441A>C
ENST00000591534.5:c.-43-19871A>C	ENSP00000467329.1:n.-43-19871A>C
ENST00000591849.5:c.-99+30879A>C	ENSP00000465347.1:n.-99+30879A>C
ENST00000634433.1:c.1016A>C	ENSP00000489431.1:p.Gln339Pro
NM_007294.3:c.1139A>C , LRG_292t1:c.1139A>C	NP_009225.1:p.Gln380Pro
NM_007297.3:c.998A>C	NP_009228.2:p.Gln333Pro
NM_007298.3:c.787+352A>C	NP_009229.2:n.787+352A>C
NM_007299.3:c.787+352A>C	NP_009230.2:n.787+352A>C
NM_007300.3:c.1139A>C	NP_009231.2:p.Gln380Pro
NR_027676.1:n.1275A>C
NM_007294.4:c.1139A>C MANE Select	NP_009225.1:p.Gln380Pro
NM_007297.4:c.998A>C	NP_009228.2:p.Gln333Pro
NM_007299.4:c.787+352A>C	NP_009230.2:n.787+352A>C
NM_007300.4:c.1139A>C	NP_009231.2:p.Gln380Pro
NR_027676.2:n.1316A>C