LDH info

Canonical Allele Identifier: CA10654843
Gene: LDLR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369871
ClinVar RCV Id: RCV000408817
dbSNP Id: rs1057516133

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105276dup , CM000681.2:g.11105276dup GRCh38
NC_000019.9:g.11215952dup , CM000681.1:g.11215952dup GRCh37
NC_000019.8:g.11076952dup NCBI36
NG_009060.1:g.20896dup , LRG_274:g.20896dup

Transcript Alleles

HGVS Amino-acid change
NM_000527.4:c.370dup , LRG_274t1:c.370dup NP_000518.1:p.Arg124ProfsTer6
NM_001195798.1:c.370dup VV NP_001182727.1:p.Arg124ProfsTer6
NM_001195799.1:c.247dup VV NP_001182728.1:p.Arg83ProfsTer6
NM_001195800.1:c.314-2116dup VV NP_001182729.1:p.=
NM_001195803.1:c.314-1289dup VV NP_001182732.1:p.=
XM_011528010.1:c.370dup XP_011526312.1:p.Arg124ProfsTer6
XM_011528011.1:c.314-1289dup XP_011526313.1:p.=
XR_244074.2:n.520dup
XM_011528010.2:c.370dup XP_011526312.1:p.Arg124ProfsTer6
XR_001753685.2:n.487dup
XR_001753686.2:n.487dup
ENST00000252444.9:n.624dup
ENST00000455727.6:c.314-2116dup ENSP00000397829.2:p.=
ENST00000535915.5:c.247dup ENSP00000440520.1:p.Arg83ProfsTer6
ENST00000545707.5:c.314-1289dup ENSP00000437639.1:p.=
ENST00000557933.5:c.370dup ENSP00000453557.1:p.Arg124ProfsTer6
ENST00000558013.5:c.370dup ENSP00000453346.1:p.Arg124ProfsTer6
ENST00000558518.5:c.370dup ENSP00000454071.1:p.Arg124ProfsTer6