Canonical Allele Identifier: CA257168

Gene: MPZ

Linked Data

• ClinVar Variation Id: 14193
• ClinVar RCV Id: RCV000015257 ; RCV002226649 ; RCV002514101
• dbSNP Id: rs121913604
• MyVariant Identifiers: chr1:g.161277104C>G (hg19) ; chr1:g.161307314C>G (hg38)
• PubMed: PMID:14638973 ; PMID:15249646

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307314C>G , CM000663.2:g.161307314C>G	GRCh38
NC_000001.10:g.161277104C>G , CM000663.1:g.161277104C>G	GRCh37
NC_000001.9:g.159543728C>G	NCBI36
NG_008055.1:g.7659G>C , LRG_256:g.7659G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.178G>C	ENSP00000488104.2:p.Asp60His
ENST00000533357.5:c.178G>C MANE Select	ENSP00000432943.1:p.Asp60His
ENST00000672287.2:c.-411G>C	ENSP00000499818.2:n.-411G>C
ENST00000672602.2:c.178G>C	ENSP00000500814.2:p.Asp60His
ENST00000674861.1:n.241G>C
ENST00000463290.5:c.178G>C	ENSP00000431538.1:p.Asp60His
ENST00000491222.5:c.-411G>C	ENSP00000431441.1:n.-411G>C
ENST00000533357.4:c.178G>C	ENSP00000432943.1:p.Asp60His
NM_000530.6:c.178G>C , LRG_256t1:c.178G>C	NP_000521.2:p.Asp60His
NM_000530.7:c.178G>C	NP_000521.2:p.Asp60His
NM_001315491.1:c.178G>C	NP_001302420.1:p.Asp60His
XM_017001321.2:c.208G>C	XP_016856810.1:p.Asp70His
NM_000530.8:c.178G>C MANE Select	NP_000521.2:p.Asp60His
NM_001315491.2:c.178G>C	NP_001302420.1:p.Asp60His