LDH info

Canonical Allele Identifier: CA10600042
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094521T>G , CM000679.2:g.43094521T>G GRCh38
NC_000017.10:g.41246538T>G , CM000679.1:g.41246538T>G GRCh37
NC_000017.9:g.38500064T>G NCBI36
NG_005905.2:g.123463A>C , LRG_292:g.123463A>C

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1010A>C , LRG_292t1:c.1010A>C NP_009225.1:p.Glu337Ala
NM_007297.3:c.869A>C VV NP_009228.2:p.Glu290Ala
NM_007298.3:c.787+223A>C VV NP_009229.2:p.=
NM_007299.3:c.787+223A>C VV NP_009230.2:p.=
NM_007300.3:c.1010A>C VV NP_009231.2:p.Glu337Ala
NR_027676.1:n.1146A>C
NM_007294.4:c.1010A>C VV MANE Preferred NP_009225.1:p.Glu337Ala
NM_007297.4:c.869A>C VV NP_009228.2:p.Glu290Ala
NM_007299.4:c.787+223A>C VV NP_009230.2:p.=
NM_007300.4:c.1010A>C VV NP_009231.2:p.Glu337Ala
NR_027676.2:n.1187A>C
ENST00000352993.7:c.670+1325A>C ENSP00000312236.5:p.=
ENST00000354071.7:c.1010A>C ENSP00000326002.7:p.Glu337Ala
ENST00000357654.7:c.1010A>C ENSP00000350283.3:p.Glu337Ala
ENST00000412061.3:n.361A>C
ENST00000461221.5:c.*793A>C ENSP00000418548.1:p.=
ENST00000468300.5:c.787+223A>C ENSP00000417148.1:p.=
ENST00000470026.5:c.1010A>C ENSP00000419274.1:p.Glu337Ala
ENST00000471181.6:c.1010A>C ENSP00000418960.2:p.Glu337Ala
ENST00000473961.5:n.607A>C
ENST00000477152.5:c.932A>C ENSP00000419988.1:p.Glu311Ala
ENST00000478531.5:c.784+223A>C ENSP00000420412.1:p.=
ENST00000484087.5:n.409+223A>C ENSP00000419481.1:p.=
ENST00000487825.5:n.412+223A>C ENSP00000418212.1:p.=
ENST00000491747.6:c.787+223A>C ENSP00000420705.2:p.=
ENST00000492859.5:c.*946A>C ENSP00000420253.1:p.=
ENST00000493795.5:c.869A>C ENSP00000418775.1:p.Glu290Ala
ENST00000493919.5:c.646+223A>C ENSP00000418819.1:p.=
ENST00000494123.5:c.1010A>C ENSP00000419103.1:p.Glu337Ala
ENST00000497488.1:c.122A>C ENSP00000418986.1:p.Glu41Ala
ENST00000586385.5:c.5-30570A>C ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-20000A>C ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30750A>C ENSP00000465347.1:p.=
ENST00000634433.1:c.887A>C ENSP00000489431.1:p.Glu296Ala