LDH info

Canonical Allele Identifier: CA16042987
Gene: CREBBP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373590
ClinVar RCV Id: RCV000414631
dbSNP Id: rs1057518498

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3793502C>A , CM000678.2:g.3793502C>A GRCh38
NC_000016.9:g.3843503C>A , CM000678.1:g.3843503C>A GRCh37
NC_000016.8:g.3783504C>A NCBI36
NG_009873.1:g.91619G>T
NG_009873.2:g.92212G>T

Transcript Alleles

HGVS Amino-acid change
NM_001079846.1:c.1100G>T VV NP_001073315.1:p.Cys367Phe
NM_004380.2:c.1100G>T VV NP_004371.2:p.Cys367Phe
XM_005255124.3:c.1100G>T XP_005255181.1:p.Cys367Phe
XM_005255125.3:c.1100G>T XP_005255182.1:p.Cys367Phe
XM_006720848.2:c.1100G>T XP_006720911.1:p.Cys367Phe
XM_011522380.1:c.1046G>T XP_011520682.1:p.Cys349Phe
XM_011522381.1:c.347G>T XP_011520683.1:p.Cys116Phe
XM_011522382.1:c.1100G>T XP_011520684.1:p.Cys367Phe
XM_005255124.4:c.1100G>T XP_005255181.1:p.Cys367Phe
XM_005255125.4:c.1100G>T XP_005255182.1:p.Cys367Phe
XM_006720848.3:c.1100G>T XP_006720911.1:p.Cys367Phe
XM_011522381.2:c.347G>T XP_011520683.1:p.Cys116Phe
XM_011522382.3:c.1100G>T XP_011520684.1:p.Cys367Phe
XM_017022944.1:c.1100G>T XP_016878433.1:p.Cys367Phe
NM_004380.3:c.1100G>T VV NP_004371.2:p.Cys367Phe
ENST00000262367.9:c.1100G>T ENSP00000262367.5:p.Cys367Phe
ENST00000382070.7:c.1100G>T ENSP00000371502.3:p.Cys367Phe