Canonical Allele Identifier: CA421404127

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1005403
• ClinVar RCV Id: RCV001302269 ; RCV003994259
• dbSNP Id: rs1670232790
• MyVariant Identifiers: chr1:g.161275898C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306108C>T , CM000663.2:g.161306108C>T	GRCh38
NC_000001.10:g.161275898C>T , CM000663.1:g.161275898C>T	GRCh37
NC_000001.9:g.159542522C>T	NCBI36
NG_008055.1:g.8865G>A , LRG_256:g.8865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.564G>A	ENSP00000488104.2:p.Gln188=
ENST00000533357.5:c.645G>A MANE Select	ENSP00000432943.1:p.Gln215=
ENST00000672287.2:c.57G>A	ENSP00000499818.2:p.Gln19=
ENST00000672602.2:c.645G>A	ENSP00000500814.2:p.Gln215=
ENST00000674861.1:n.708G>A
ENST00000463290.5:c.645G>A	ENSP00000431538.1:p.Gln215=
ENST00000476410.1:n.105G>A
ENST00000488271.1:n.83G>A
ENST00000491222.5:c.57G>A	ENSP00000431441.1:p.Gln19=
ENST00000526189.2:c.308G>A
ENST00000533357.4:c.645G>A	ENSP00000432943.1:p.Gln215=
NM_000530.6:c.645G>A , LRG_256t1:c.645G>A	NP_000521.2:p.Gln215=
NM_000530.7:c.645G>A	NP_000521.2:p.Gln215=
NM_001315491.1:c.645G>A	NP_001302420.1:p.Gln215=
XM_017001321.2:c.675G>A	XP_016856810.1:p.Gln225=
NM_000530.8:c.645G>A MANE Select	NP_000521.2:p.Gln215=
NM_001315491.2:c.645G>A	NP_001302420.1:p.Gln215=