Canonical Allele Identifier: CA343344589

Gene: MPZ

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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