LDH info

Canonical Allele Identifier: CA222697
Gene: CREBBP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 95048
ClinVar RCV Id: RCV000081053
dbSNP Id: rs398124147

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3736729G>C , CM000678.2:g.3736729G>C GRCh38
NC_000016.9:g.3786730G>C , CM000678.1:g.3786730G>C GRCh37
NC_000016.8:g.3726731G>C NCBI36
NG_009873.1:g.148392C>G

Transcript Alleles

HGVS Amino-acid change
NM_001079846.1:c.4367C>G VV NP_001073315.1:p.Pro1456Arg
NM_004380.2:c.4481C>G VV NP_004371.2:p.Pro1494Arg
XM_005255124.3:c.4436C>G XP_005255181.1:p.Pro1479Arg
XM_005255125.3:c.4064C>G XP_005255182.1:p.Pro1355Arg
XM_006720848.2:c.4220C>G XP_006720911.1:p.Pro1407Arg
XM_011522380.1:c.4427C>G XP_011520682.1:p.Pro1476Arg
XM_011522381.1:c.3728C>G XP_011520683.1:p.Pro1243Arg
XM_005255124.4:c.4436C>G XP_005255181.1:p.Pro1479Arg
XM_005255125.4:c.4064C>G XP_005255182.1:p.Pro1355Arg
XM_006720848.3:c.4220C>G XP_006720911.1:p.Pro1407Arg
XM_011522381.2:c.3728C>G XP_011520683.1:p.Pro1243Arg
XM_017022944.1:c.4475C>G XP_016878433.1:p.Pro1492Arg
ENST00000262367.9:c.4481C>G ENSP00000262367.5:p.Pro1494Arg
ENST00000382070.7:c.4367C>G ENSP00000371502.3:p.Pro1456Arg
ENST00000570939.2:n.3116C>G ENSP00000461002.2:p.Pro1039Arg
ENST00000571763.5:n.271C>G
ENST00000574740.1:n.302C>G
ENST00000576720.1:n.3304C>G