Canonical Allele Identifier: CA343344611
Gene: MPZ HGNC NCBI

Linked Data

ClinVar Variation Id: 2983691
ClinVar RCV Id: RCV003840786

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306112C>A , CM000663.2:g.161306112C>A GRCh38
NC_000001.10:g.161275902C>A , CM000663.1:g.161275902C>A GRCh37
NC_000001.9:g.159542526C>A NCBI36
NG_008055.1:g.8861G>T , LRG_256:g.8861G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.560G>T ENSP00000488104.2:p.Arg187Leu
ENST00000533357.5:c.641G>T MANE Select ENSP00000432943.1:p.Arg214Leu
ENST00000672287.2:c.53G>T ENSP00000499818.2:p.Arg18Leu
ENST00000672602.2:c.641G>T ENSP00000500814.2:p.Arg214Leu
ENST00000674861.1:n.704G>T
ENST00000463290.5:c.641G>T ENSP00000431538.1:p.Arg214Leu
ENST00000476410.1:n.101G>T
ENST00000488271.1:n.79G>T
ENST00000491222.5:c.53G>T ENSP00000431441.1:p.Arg18Leu
ENST00000526189.2:c.304G>T
ENST00000533357.4:c.641G>T ENSP00000432943.1:p.Arg214Leu
NM_000530.6:c.641G>T , LRG_256t1:c.641G>T NP_000521.2:p.Arg214Leu
NM_000530.7:c.641G>T NP_000521.2:p.Arg214Leu
NM_001315491.1:c.641G>T NP_001302420.1:p.Arg214Leu
XM_017001321.2:c.671G>T XP_016856810.1:p.Arg224Leu
NM_000530.8:c.641G>T MANE Select NP_000521.2:p.Arg214Leu
NM_001315491.2:c.641G>T NP_001302420.1:p.Arg214Leu