LDH info

Canonical Allele Identifier: CA119620
Gene: PMP22 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8433
dbSNP Id: rs104894621

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15239575G>A , CM000679.2:g.15239575G>A GRCh38
NC_000017.10:g.15142892G>A , CM000679.1:g.15142892G>A GRCh37
NC_000017.9:g.15083617G>A NCBI36
NG_007949.1:g.30753C>T , LRG_263:g.30753C>T

Transcript Alleles

HGVS Amino-acid change
NM_000304.3:c.215C>T VV NP_000295.1:p.Ser72Leu
NM_001281455.1:c.215C>T VV NP_001268384.1:p.Ser72Leu
NM_001281456.1:c.215C>T VV NP_001268385.1:p.Ser72Leu
NM_153321.2:c.215C>T VV NP_696996.1:p.Ser72Leu
NM_153322.2:c.215C>T VV NP_696997.1:p.Ser72Leu
NR_104017.1:n.341C>T
NR_104018.1:n.241C>T
XM_011523943.1:c.215C>T XP_011522245.1:p.Ser72Leu
NM_001330143.1:c.215C>T VV NP_001317072.1:p.Ser72Leu
XM_024450806.1:c.215C>T XP_024306574.1:p.Ser72Leu
NM_000304.4:c.215C>T VV MANE Preferred NP_000295.1:p.Ser72Leu
NM_001281456.2:c.215C>T VV NP_001268385.1:p.Ser72Leu
NM_001330143.2:c.215C>T VV NP_001317072.1:p.Ser72Leu
NM_153321.3:c.215C>T VV NP_696996.1:p.Ser72Leu
NM_153322.3:c.215C>T VV NP_696997.1:p.Ser72Leu
NR_104017.2:n.310C>T
NR_104018.2:n.210C>T
ENST00000312280.7:c.215C>T ENSP00000308937.3:p.Ser72Leu
ENST00000395936.5:c.215C>T ENSP00000379268.1:p.Ser72Leu
ENST00000395938.6:c.215C>T ENSP00000379269.2:p.Ser72Leu
ENST00000426385.3:c.215C>T ENSP00000409824.3:p.Ser72Leu
ENST00000494511.5:c.36C>T ENSP00000462782.1:p.Val12=
ENST00000580584.1:c.36C>T ENSP00000464468.1:p.Val12=
ENST00000612492.4:c.215C>T ENSP00000484631.1:p.Ser72Leu