LDH info

Canonical Allele Identifier: CA10599829
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 485404

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094417A>G , CM000679.2:g.43094417A>G GRCh38
NC_000017.10:g.41246434A>G , CM000679.1:g.41246434A>G GRCh37
NC_000017.9:g.38499960A>G NCBI36
NG_005905.2:g.123567T>C , LRG_292:g.123567T>C

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1114T>C , LRG_292t1:c.1114T>C NP_009225.1:p.Trp372Arg
NM_007297.3:c.973T>C VV NP_009228.2:p.Trp325Arg
NM_007298.3:c.787+327T>C VV NP_009229.2:p.=
NM_007299.3:c.787+327T>C VV NP_009230.2:p.=
NM_007300.3:c.1114T>C VV NP_009231.2:p.Trp372Arg
NR_027676.1:n.1250T>C
NM_007294.4:c.1114T>C VV MANE Preferred NP_009225.1:p.Trp372Arg
NM_007297.4:c.973T>C VV NP_009228.2:p.Trp325Arg
NM_007299.4:c.787+327T>C VV NP_009230.2:p.=
NM_007300.4:c.1114T>C VV NP_009231.2:p.Trp372Arg
NR_027676.2:n.1291T>C
ENST00000352993.7:c.670+1429T>C ENSP00000312236.5:p.=
ENST00000354071.7:c.1114T>C ENSP00000326002.7:p.Trp372Arg
ENST00000357654.7:c.1114T>C ENSP00000350283.3:p.Trp372Arg
ENST00000412061.3:n.465T>C
ENST00000461221.5:c.*897T>C ENSP00000418548.1:p.=
ENST00000468300.5:c.787+327T>C ENSP00000417148.1:p.=
ENST00000470026.5:c.1114T>C ENSP00000419274.1:p.Trp372Arg
ENST00000471181.6:c.1114T>C ENSP00000418960.2:p.Trp372Arg
ENST00000473961.5:n.711T>C
ENST00000477152.5:c.1036T>C ENSP00000419988.1:p.Trp346Arg
ENST00000478531.5:c.784+327T>C ENSP00000420412.1:p.=
ENST00000484087.5:n.409+327T>C ENSP00000419481.1:p.=
ENST00000487825.5:n.412+327T>C ENSP00000418212.1:p.=
ENST00000491747.6:c.787+327T>C ENSP00000420705.2:p.=
ENST00000492859.5:c.*1050T>C ENSP00000420253.1:p.=
ENST00000493795.5:c.973T>C ENSP00000418775.1:p.Trp325Arg
ENST00000493919.5:c.646+327T>C ENSP00000418819.1:p.=
ENST00000494123.5:c.1114T>C ENSP00000419103.1:p.Trp372Arg
ENST00000497488.1:c.226T>C ENSP00000418986.1:p.Trp76Arg
ENST00000586385.5:c.5-30466T>C ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-19896T>C ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30854T>C ENSP00000465347.1:p.=
ENST00000634433.1:c.991T>C ENSP00000489431.1:p.Trp331Arg