Canonical Allele Identifier: CA343349807

Gene: MPZ

Linked Data

• ClinVar Variation Id: 581604
• ClinVar RCV Id: RCV000705483 ; RCV001027481
• dbSNP Id: rs1558154208
• MyVariant Identifiers: chr1:g.161276678C>T (hg19) ; chr1:g.161306888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306888C>T , CM000663.2:g.161306888C>T	GRCh38
NC_000001.10:g.161276678C>T , CM000663.1:g.161276678C>T	GRCh37
NC_000001.9:g.159543302C>T	NCBI36
NG_008055.1:g.8085G>A , LRG_256:g.8085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.268G>A	ENSP00000488104.2:p.Asp90Asn
ENST00000533357.5:c.268G>A MANE Select	ENSP00000432943.1:p.Asp90Asn
ENST00000672287.2:c.-321G>A	ENSP00000499818.2:n.-321G>A
ENST00000672602.2:c.268G>A	ENSP00000500814.2:p.Asp90Asn
ENST00000674861.1:n.331G>A
ENST00000463290.5:c.268G>A	ENSP00000431538.1:p.Asp90Asn
ENST00000491222.5:c.-321G>A	ENSP00000431441.1:n.-321G>A
ENST00000526189.2:c.12G>A
ENST00000533357.4:c.268G>A	ENSP00000432943.1:p.Asp90Asn
NM_000530.6:c.268G>A , LRG_256t1:c.268G>A	NP_000521.2:p.Asp90Asn
NM_000530.7:c.268G>A	NP_000521.2:p.Asp90Asn
NM_001315491.1:c.268G>A	NP_001302420.1:p.Asp90Asn
XM_017001321.2:c.298G>A	XP_016856810.1:p.Asp100Asn
NM_000530.8:c.268G>A MANE Select	NP_000521.2:p.Asp90Asn
NM_001315491.2:c.268G>A	NP_001302420.1:p.Asp90Asn