LDH info

Canonical Allele Identifier: CA1371869
Gene: CD46 HGNC NCBI
C1orf132 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 294975
dbSNP Id: rs35366573
COSMIC: COSM33621

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.207785101C>T , CM000663.2:g.207785101C>T GRCh38
NC_000001.10:g.207958446C>T , CM000663.1:g.207958446C>T GRCh37
NC_000001.9:g.206025069C>T NCBI36
NG_009296.1:g.38045C>T , LRG_155:g.38045C>T

Transcript Alleles

HGVS Amino-acid change
NM_002389.4:c.1058C>T , LRG_155t1:c.1058C>T (CD46) NP_002380.3:p.Ala353Val
NM_153826.3:c.1013C>T (CD46) VV NP_722548.1:p.Ala338Val
NM_172350.2:c.968C>T (CD46) VV NP_758860.1:p.Ala323Val
NM_172351.2:c.1013C>T (CD46) VV NP_758861.1:p.Ala338Val
NM_172352.2:c.968C>T (CD46) VV NP_758862.1:p.Ala323Val
NM_172353.2:c.968C>T (CD46) VV NP_758863.1:p.Ala323Val
NM_172359.2:c.1058C>T (CD46) VV NP_758869.1:p.Ala353Val
NM_172361.2:c.926C>T (CD46) VV NP_758871.1:p.Ala309Val
XM_011509563.1:c.1016C>T (CD46) XP_011507865.1:p.Ala339Val
XM_011509564.1:c.971C>T (CD46) XP_011507866.1:p.Ala324Val
XR_922496.1:n.7666+20904G>A (C1orf132)
XR_922497.1:n.6306-22113G>A (C1orf132)
NM_172355.2:c.971C>T (CD46) VV NP_758865.1:p.Ala324Val
NM_172356.2:c.971C>T (CD46) VV NP_758866.1:p.Ala324Val
NM_172357.2:c.926C>T (CD46) VV NP_758867.1:p.Ala309Val
NM_172358.2:c.1013C>T (CD46) VV NP_758868.1:p.Ala338Val
XM_011509563.2:c.1016C>T (CD46) XP_011507865.1:p.Ala339Val
XM_017001308.2:c.1016C>T (CD46) XP_016856797.1:p.Ala339Val
XR_001737177.2:n.2164C>T (CD46)
XR_002956621.1:n.2702C>T (CD46)
XR_002956622.1:n.2702C>T (CD46)
NM_153826.4:c.1013C>T (CD46) VV NP_722548.1:p.Ala338Val
NM_172350.3:c.968C>T (CD46) VV NP_758860.1:p.Ala323Val
NM_172351.3:c.1013C>T (CD46) VV NP_758861.1:p.Ala338Val
NM_172352.3:c.968C>T (CD46) VV NP_758862.1:p.Ala323Val
NM_172353.3:c.968C>T (CD46) VV NP_758863.1:p.Ala323Val
NM_172355.3:c.971C>T (CD46) VV NP_758865.1:p.Ala324Val
NM_172356.3:c.971C>T (CD46) VV NP_758866.1:p.Ala324Val
NM_172357.3:c.926C>T (CD46) VV NP_758867.1:p.Ala309Val
NM_172358.3:c.1013C>T (CD46) VV NP_758868.1:p.Ala338Val
NM_172359.3:c.1058C>T (CD46) VV NP_758869.1:p.Ala353Val
NM_172361.3:c.926C>T (CD46) VV NP_758871.1:p.Ala309Val
ENST00000322875.8:c.1058C>T ENSP00000313875.4:p.Ala353Val
ENST00000322918.9:c.968C>T ENSP00000314664.5:p.Ala323Val
ENST00000354848.5:c.1013C>T ENSP00000346912.1:p.Ala338Val
ENST00000357714.5:c.968C>T ENSP00000350346.1:p.Ala323Val
ENST00000358170.6:c.1058C>T ENSP00000350893.2:p.Ala353Val
ENST00000360212.6:c.926C>T ENSP00000353342.2:p.Ala309Val
ENST00000367041.5:c.968C>T ENSP00000356008.1:p.Ala323Val
ENST00000367042.5:c.1013C>T ENSP00000356009.1:p.Ala338Val
ENST00000367047.5:c.869C>T ENSP00000356014.1:p.Ala290Val
ENST00000462968.2:n.94C>T
ENST00000469535.5:n.5762C>T
ENST00000471987.1:n.123C>T
ENST00000480003.5:c.971C>T ENSP00000418471.1:p.Ala324Val
ENST00000488596.5:n.392C>T