LDH info

Canonical Allele Identifier: CA258118
Gene: APP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18106
ClinVar RCV Id: RCV000019734
dbSNP Id: rs193922916

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.25897619G>A , CM000683.2:g.25897619G>A GRCh38
NC_000021.8:g.27269931G>A , CM000683.1:g.27269931G>A GRCh37
NC_000021.7:g.26191802G>A NCBI36
NG_007376.1:g.278202C>T
NG_007376.2:g.278510C>T

Transcript Alleles

HGVS Amino-acid change
NM_000484.3:c.2018C>T VV NP_000475.1:p.Ala673Val
NM_001136016.3:c.1946C>T VV NP_001129488.1:p.Ala649Val
NM_001136129.2:c.1625C>T VV NP_001129601.1:p.Ala542Val
NM_001136130.2:c.1850C>T VV NP_001129602.1:p.Ala617Val
NM_001136131.2:c.1688C>T VV NP_001129603.1:p.Ala563Val
NM_001204301.1:c.1964C>T VV NP_001191230.1:p.Ala655Val
NM_001204302.1:c.1907C>T VV NP_001191231.1:p.Ala636Val
NM_001204303.1:c.1739C>T VV NP_001191232.1:p.Ala580Val
NM_201413.2:c.1961C>T VV NP_958816.1:p.Ala654Val
NM_201414.2:c.1793C>T VV NP_958817.1:p.Ala598Val
NM_000484.4:c.2018C>T VV MANE Preferred NP_000475.1:p.Ala673Val
NM_001136129.3:c.1625C>T VV NP_001129601.1:p.Ala542Val
NM_001136130.3:c.1850C>T VV NP_001129602.1:p.Ala617Val
NM_001204301.2:c.1964C>T VV NP_001191230.1:p.Ala655Val
NM_001204302.2:c.1907C>T VV NP_001191231.1:p.Ala636Val
NM_001204303.2:c.1739C>T VV NP_001191232.1:p.Ala580Val
NM_201413.3:c.1961C>T VV NP_958816.1:p.Ala654Val
NM_201414.3:c.1793C>T VV NP_958817.1:p.Ala598Val
ENST00000346798.7:c.2018C>T ENSP00000284981.4:p.Ala673Val
ENST00000348990.9:c.1793C>T ENSP00000345463.5:p.Ala598Val
ENST00000354192.7:c.1625C>T ENSP00000346129.3:p.Ala542Val
ENST00000357903.7:c.1961C>T ENSP00000350578.3:p.Ala654Val
ENST00000358918.7:c.1964C>T ENSP00000351796.3:p.Ala655Val
ENST00000359726.7:c.1688C>T ENSP00000352760.4:p.Ala563Val
ENST00000439274.6:c.1850C>T ENSP00000398879.2:p.Ala617Val
ENST00000440126.7:c.1946C>T ENSP00000387483.2:p.Ala649Val
ENST00000464867.1:n.365C>T