LDH info

Canonical Allele Identifier: CA225117
Gene: PSEN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 98080
dbSNP Id: rs63750301

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73198052C>T , CM000676.2:g.73198052C>T GRCh38
NC_000014.8:g.73664760C>T , CM000676.1:g.73664760C>T GRCh37
NC_000014.7:g.72734513C>T NCBI36
NG_007386.2:g.66582C>T

Transcript Alleles

HGVS Amino-acid change
NM_000021.3:c.791C>T VV NP_000012.1:p.Pro264Leu
NM_007318.2:c.779C>T VV NP_015557.2:p.Pro260Leu
XM_005267864.1:c.791C>T XP_005267921.1:p.Pro264Leu
XM_005267866.1:c.779C>T XP_005267923.1:p.Pro260Leu
XM_011536971.1:c.791C>T XP_011535273.1:p.Pro264Leu
XM_011536972.1:c.791C>T XP_011535274.1:p.Pro264Leu
XM_011536973.1:c.779C>T XP_011535275.1:p.Pro260Leu
XM_011536974.1:c.779C>T XP_011535276.1:p.Pro260Leu
XM_005267864.3:c.791C>T XP_005267921.1:p.Pro264Leu
XM_005267866.2:c.779C>T XP_005267923.1:p.Pro260Leu
XM_011536972.2:c.791C>T XP_011535274.1:p.Pro264Leu
XM_011536973.2:c.779C>T XP_011535275.1:p.Pro260Leu
XM_011536974.2:c.779C>T XP_011535276.1:p.Pro260Leu
NM_000021.4:c.791C>T VV MANE Preferred NP_000012.1:p.Pro264Leu
ENST00000324501.9:c.791C>T ENSP00000326366.5:p.Pro264Leu
ENST00000357710.8:c.779C>T ENSP00000350342.4:p.Pro260Leu
ENST00000394164.5:c.779C>T ENSP00000377719.1:p.Pro260Leu
ENST00000406768.1:c.515C>T ENSP00000385948.1:p.Pro172Leu
ENST00000553855.5:n.791C>T ENSP00000452242.1:p.Pro264Leu
ENST00000554995.1:n.343C>T
ENST00000555386.5:n.779C>T ENSP00000450845.1:p.Pro260Leu
ENST00000557511.5:n.791C>T ENSP00000451429.1:p.Pro264Leu