LDH info

Canonical Allele Identifier: CA225055
Gene: PSEN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 98046
ClinVar RCV Id: RCV000084332
dbSNP Id: rs63749911

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73186901T>C , CM000676.2:g.73186901T>C GRCh38
NC_000014.8:g.73653609T>C , CM000676.1:g.73653609T>C GRCh37
NC_000014.7:g.72723362T>C NCBI36
NG_007386.2:g.55431T>C

Transcript Alleles

HGVS Amino-acid change
NM_000021.3:c.529T>C VV NP_000012.1:p.Phe177Leu
NM_007318.2:c.517T>C VV NP_015557.2:p.Phe173Leu
XM_005267864.1:c.529T>C XP_005267921.1:p.Phe177Leu
XM_005267866.1:c.517T>C XP_005267923.1:p.Phe173Leu
XM_011536971.1:c.529T>C XP_011535273.1:p.Phe177Leu
XM_011536972.1:c.529T>C XP_011535274.1:p.Phe177Leu
XM_011536973.1:c.517T>C XP_011535275.1:p.Phe173Leu
XM_011536974.1:c.517T>C XP_011535276.1:p.Phe173Leu
XM_005267864.3:c.529T>C XP_005267921.1:p.Phe177Leu
XM_005267866.2:c.517T>C XP_005267923.1:p.Phe173Leu
XM_011536972.2:c.529T>C XP_011535274.1:p.Phe177Leu
XM_011536973.2:c.517T>C XP_011535275.1:p.Phe173Leu
XM_011536974.2:c.517T>C XP_011535276.1:p.Phe173Leu
NM_000021.4:c.529T>C VV MANE Preferred NP_000012.1:p.Phe177Leu
NM_007318.3:c.517T>C VV NP_015557.2:p.Phe173Leu
ENST00000324501.9:c.529T>C ENSP00000326366.5:p.Phe177Leu
ENST00000357710.8:c.517T>C ENSP00000350342.4:p.Phe173Leu
ENST00000394164.5:c.517T>C ENSP00000377719.1:p.Phe173Leu
ENST00000406768.1:c.253T>C ENSP00000385948.1:p.Phe85Leu
ENST00000553855.5:n.529T>C ENSP00000452242.1:p.Phe177Leu
ENST00000555386.5:n.517T>C ENSP00000450845.1:p.Phe173Leu
ENST00000557511.5:n.529T>C ENSP00000451429.1:p.Phe177Leu