Canonical Allele Identifier: CA257174

Gene: MPZ

Linked Data

• ClinVar Variation Id: 14198
• ClinVar RCV Id: RCV000015262 ; RCV000790090
• dbSNP Id: rs121913608
• MyVariant Identifiers: chr1:g.161276579C>T (hg19) ; chr1:g.161306789C>T (hg38)
• PubMed: PMID:18209201

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306789C>T , CM000663.2:g.161306789C>T	GRCh38
NC_000001.10:g.161276579C>T , CM000663.1:g.161276579C>T	GRCh37
NC_000001.9:g.159543203C>T	NCBI36
NG_008055.1:g.8184G>A , LRG_256:g.8184G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367G>A	ENSP00000488104.2:p.Val123Met
ENST00000533357.5:c.367G>A MANE Select	ENSP00000432943.1:p.Gly123Ser
ENST00000672287.2:c.-222G>A	ENSP00000499818.2:n.-222G>A
ENST00000672602.2:c.367G>A	ENSP00000500814.2:p.Gly123Ser
ENST00000674861.1:n.430G>A
ENST00000463290.5:c.367G>A	ENSP00000431538.1:p.Gly123Ser
ENST00000491222.5:c.-222G>A	ENSP00000431441.1:n.-222G>A
ENST00000526189.2:c.111G>A
ENST00000533357.4:c.367G>A	ENSP00000432943.1:p.Gly123Ser
NM_000530.6:c.367G>A , LRG_256t1:c.367G>A	NP_000521.2:p.Gly123Ser
NM_000530.7:c.367G>A	NP_000521.2:p.Gly123Ser
NM_001315491.1:c.367G>A	NP_001302420.1:p.Gly123Ser
XM_017001321.2:c.397G>A	XP_016856810.1:p.Gly133Ser
NM_000530.8:c.367G>A MANE Select	NP_000521.2:p.Gly123Ser
NM_001315491.2:c.367G>A	NP_001302420.1:p.Gly123Ser