Canonical Allele Identifier: CA257154

Gene: MPZ

Linked Data

• ClinVar Variation Id: 14176
• ClinVar RCV Id: RCV000015239 ; RCV000196172 ; RCV000415463 ; RCV000376287 ; RCV001173692 ; RCV002433457 ; RCV004528112
• dbSNP Id: rs121913589
• gnomAD v3: 1-161306863-C-T
• gnomAD v4: 1-161306863-C-T
• MyVariant Identifiers: chr1:g.161276653C>T (hg19) ; chr1:g.161306863C>T (hg38)
• PubMed: PMID:7688964 ; PMID:8644725 ; PMID:8797476 ; PMID:10737979 ; PMID:11437164 ; PMID:12221176 ; PMID:20215982 ; PMID:20461396

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306863C>T , CM000663.2:g.161306863C>T	GRCh38
NC_000001.10:g.161276653C>T , CM000663.1:g.161276653C>T	GRCh37
NC_000001.9:g.159543277C>T	NCBI36
NG_008055.1:g.8110G>A , LRG_256:g.8110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.293G>A	ENSP00000488104.2:p.Arg98His
ENST00000533357.5:c.293G>A MANE Select	ENSP00000432943.1:p.Arg98His
ENST00000672287.2:c.-296G>A	ENSP00000499818.2:n.-296G>A
ENST00000672602.2:c.293G>A	ENSP00000500814.2:p.Arg98His
ENST00000674861.1:n.356G>A
ENST00000463290.5:c.293G>A	ENSP00000431538.1:p.Arg98His
ENST00000491222.5:c.-296G>A	ENSP00000431441.1:n.-296G>A
ENST00000526189.2:c.37G>A
ENST00000533357.4:c.293G>A	ENSP00000432943.1:p.Arg98His
NM_000530.6:c.293G>A , LRG_256t1:c.293G>A	NP_000521.2:p.Arg98His
NM_000530.7:c.293G>A	NP_000521.2:p.Arg98His
NM_001315491.1:c.293G>A	NP_001302420.1:p.Arg98His
XM_017001321.2:c.323G>A	XP_016856810.1:p.Arg108His
NM_000530.8:c.293G>A MANE Select	NP_000521.2:p.Arg98His
NM_001315491.2:c.293G>A	NP_001302420.1:p.Arg98His