Canonical Allele Identifier: CA343344586

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275898C>A (hg19) ; chr1:g.161306108C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.564G>T	ENSP00000488104.2:p.Gln188His
ENST00000533357.5:c.645G>T MANE Select	ENSP00000432943.1:p.Gln215His
ENST00000672287.2:c.57G>T	ENSP00000499818.2:p.Gln19His
ENST00000672602.2:c.645G>T	ENSP00000500814.2:p.Gln215His
ENST00000674861.1:n.708G>T
ENST00000463290.5:c.645G>T	ENSP00000431538.1:p.Gln215His
ENST00000476410.1:n.105G>T
ENST00000488271.1:n.83G>T
ENST00000491222.5:c.57G>T	ENSP00000431441.1:p.Gln19His
ENST00000526189.2:c.308G>T
ENST00000533357.4:c.645G>T	ENSP00000432943.1:p.Gln215His
NM_000530.6:c.645G>T , LRG_256t1:c.645G>T	NP_000521.2:p.Gln215His
NM_000530.7:c.645G>T	NP_000521.2:p.Gln215His
NM_001315491.1:c.645G>T	NP_001302420.1:p.Gln215His
XM_017001321.2:c.675G>T	XP_016856810.1:p.Gln225His
NM_000530.8:c.645G>T MANE Select	NP_000521.2:p.Gln215His
NM_001315491.2:c.645G>T	NP_001302420.1:p.Gln215His