Canonical Allele Identifier: CA347518

Gene: MPZ

Linked Data

• ClinVar Variation Id: 217232
• ClinVar RCV Id: RCV000236108 ; RCV000206430 ; RCV002327052
• dbSNP Id: rs371856018
• gnomAD v3: 1-161307376-T-G
• gnomAD v4: 1-161307376-T-G
• MyVariant Identifiers: chr1:g.161277166T>G (hg19) ; chr1:g.161307376T>G (hg38)
• PubMed: PMID:14711881 ; PMID:16844954 ; PMID:17602703 ; PMID:18337304

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307376T>G , CM000663.2:g.161307376T>G	GRCh38
NC_000001.10:g.161277166T>G , CM000663.1:g.161277166T>G	GRCh37
NC_000001.9:g.159543790T>G	NCBI36
NG_008055.1:g.7597A>C , LRG_256:g.7597A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.116A>C	ENSP00000488104.2:p.His39Pro
ENST00000533357.5:c.116A>C MANE Select	ENSP00000432943.1:p.His39Pro
ENST00000672287.2:c.-473A>C	ENSP00000499818.2:n.-473A>C
ENST00000672602.2:c.116A>C	ENSP00000500814.2:p.His39Pro
ENST00000674861.1:n.179A>C
ENST00000463290.5:c.116A>C	ENSP00000431538.1:p.His39Pro
ENST00000491222.5:c.-473A>C	ENSP00000431441.1:n.-473A>C
ENST00000533357.4:c.116A>C	ENSP00000432943.1:p.His39Pro
NM_000530.6:c.116A>C , LRG_256t1:c.116A>C	NP_000521.2:p.His39Pro
NM_000530.7:c.116A>C	NP_000521.2:p.His39Pro
NM_001315491.1:c.116A>C	NP_001302420.1:p.His39Pro
XM_017001321.2:c.146A>C	XP_016856810.1:p.His49Pro
NM_000530.8:c.116A>C MANE Select	NP_000521.2:p.His39Pro
NM_001315491.2:c.116A>C	NP_001302420.1:p.His39Pro