Canonical Allele Identifier: CA343349193

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637765
• ClinVar RCV Id: RCV000790066
• dbSNP Id: rs1571818972
• MyVariant Identifiers: chr1:g.161276594C>T (hg19) ; chr1:g.161306804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306804C>T , CM000663.2:g.161306804C>T	GRCh38
NC_000001.10:g.161276594C>T , CM000663.1:g.161276594C>T	GRCh37
NC_000001.9:g.159543218C>T	NCBI36
NG_008055.1:g.8169G>A , LRG_256:g.8169G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.352G>A	ENSP00000488104.2:p.Asp118Asn
ENST00000533357.5:c.352G>A MANE Select	ENSP00000432943.1:p.Asp118Asn
ENST00000672287.2:c.-237G>A	ENSP00000499818.2:n.-237G>A
ENST00000672602.2:c.352G>A	ENSP00000500814.2:p.Asp118Asn
ENST00000674861.1:n.415G>A
ENST00000463290.5:c.352G>A	ENSP00000431538.1:p.Asp118Asn
ENST00000491222.5:c.-237G>A	ENSP00000431441.1:n.-237G>A
ENST00000526189.2:c.96G>A
ENST00000533357.4:c.352G>A	ENSP00000432943.1:p.Asp118Asn
NM_000530.6:c.352G>A , LRG_256t1:c.352G>A	NP_000521.2:p.Asp118Asn
NM_000530.7:c.352G>A	NP_000521.2:p.Asp118Asn
NM_001315491.1:c.352G>A	NP_001302420.1:p.Asp118Asn
XM_017001321.2:c.382G>A	XP_016856810.1:p.Asp128Asn
NM_000530.8:c.352G>A MANE Select	NP_000521.2:p.Asp118Asn
NM_001315491.2:c.352G>A	NP_001302420.1:p.Asp118Asn