LDH info

Canonical Allele Identifier: CA000736
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 54128
dbSNP Id: rs80357139

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094429C>A , CM000679.2:g.43094429C>A GRCh38
NC_000017.10:g.41246446C>A , CM000679.1:g.41246446C>A GRCh37
NC_000017.9:g.38499972C>A NCBI36
NG_005905.2:g.123555G>T , LRG_292:g.123555G>T

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1102G>T , LRG_292t1:c.1102G>T NP_009225.1:p.Glu368Ter
NM_007297.3:c.961G>T VV NP_009228.2:p.Glu321Ter
NM_007298.3:c.787+315G>T VV NP_009229.2:p.=
NM_007299.3:c.787+315G>T VV NP_009230.2:p.=
NM_007300.3:c.1102G>T VV NP_009231.2:p.Glu368Ter
NR_027676.1:n.1238G>T
NM_007294.4:c.1102G>T VV MANE Preferred NP_009225.1:p.Glu368Ter
NM_007297.4:c.961G>T VV NP_009228.2:p.Glu321Ter
NM_007299.4:c.787+315G>T VV NP_009230.2:p.=
NM_007300.4:c.1102G>T VV NP_009231.2:p.Glu368Ter
NR_027676.2:n.1279G>T
ENST00000352993.7:c.670+1417G>T ENSP00000312236.5:p.=
ENST00000354071.7:c.1102G>T ENSP00000326002.7:p.Glu368Ter
ENST00000357654.7:c.1102G>T ENSP00000350283.3:p.Glu368Ter
ENST00000412061.3:n.453G>T
ENST00000461221.5:c.*885G>T ENSP00000418548.1:p.=
ENST00000468300.5:c.787+315G>T ENSP00000417148.1:p.=
ENST00000470026.5:c.1102G>T ENSP00000419274.1:p.Glu368Ter
ENST00000471181.6:c.1102G>T ENSP00000418960.2:p.Glu368Ter
ENST00000473961.5:n.699G>T
ENST00000477152.5:c.1024G>T ENSP00000419988.1:p.Glu342Ter
ENST00000478531.5:c.784+315G>T ENSP00000420412.1:p.=
ENST00000484087.5:n.409+315G>T ENSP00000419481.1:p.=
ENST00000487825.5:n.412+315G>T ENSP00000418212.1:p.=
ENST00000491747.6:c.787+315G>T ENSP00000420705.2:p.=
ENST00000492859.5:c.*1038G>T ENSP00000420253.1:p.=
ENST00000493795.5:c.961G>T ENSP00000418775.1:p.Glu321Ter
ENST00000493919.5:c.646+315G>T ENSP00000418819.1:p.=
ENST00000494123.5:c.1102G>T ENSP00000419103.1:p.Glu368Ter
ENST00000497488.1:c.214G>T ENSP00000418986.1:p.Glu72Ter
ENST00000586385.5:c.5-30478G>T ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-19908G>T ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30842G>T ENSP00000465347.1:p.=
ENST00000634433.1:c.979G>T ENSP00000489431.1:p.Glu327Ter