Canonical Allele Identifier: CA257146

Gene: MPZ

Linked Data

• ClinVar Variation Id: 14172
• ClinVar RCV Id: RCV000015235 ; RCV000425572 ; RCV001807729
• dbSNP Id: rs121913587
• MyVariant Identifiers: chr1:g.161276542A>G (hg19) ; chr1:g.161306752A>G (hg38)
• PubMed: PMID:8664899

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306752A>G , CM000663.2:g.161306752A>G	GRCh38
NC_000001.10:g.161276542A>G , CM000663.1:g.161276542A>G	GRCh37
NC_000001.9:g.159543166A>G	NCBI36
NG_008055.1:g.8221T>C , LRG_256:g.8221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+37T>C	ENSP00000488104.2:n.367+37T>C
ENST00000533357.5:c.404T>C MANE Select	ENSP00000432943.1:p.Ile135Thr
ENST00000672287.2:c.-185T>C	ENSP00000499818.2:n.-185T>C
ENST00000672602.2:c.404T>C	ENSP00000500814.2:p.Ile135Thr
ENST00000674861.1:n.467T>C
ENST00000463290.5:c.404T>C	ENSP00000431538.1:p.Ile135Thr
ENST00000491222.5:c.-185T>C	ENSP00000431441.1:n.-185T>C
ENST00000526189.2:c.111+37T>C
ENST00000533357.4:c.404T>C	ENSP00000432943.1:p.Ile135Thr
NM_000530.6:c.404T>C , LRG_256t1:c.404T>C	NP_000521.2:p.Ile135Thr
NM_000530.7:c.404T>C	NP_000521.2:p.Ile135Thr
NM_001315491.1:c.404T>C	NP_001302420.1:p.Ile135Thr
XM_017001321.2:c.434T>C	XP_016856810.1:p.Ile145Thr
NM_000530.8:c.404T>C MANE Select	NP_000521.2:p.Ile135Thr
NM_001315491.2:c.404T>C	NP_001302420.1:p.Ile135Thr