Canonical Allele Identifier: CA1141581143

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306110G= , CM000663.2:g.161306110G=	GRCh38
NC_000001.10:g.161275900G= , CM000663.1:g.161275900G=	GRCh37
NC_000001.9:g.159542524G=	NCBI36
NG_008055.1:g.8863C= , LRG_256:g.8863C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000530.8:c.643C= MANE Select	NP_000521.2:p.Gln215=
ENST00000533357.5:c.643C= MANE Select	ENSP00000432943.1:p.Gln215=
NM_000530.6:c.643C= , LRG_256t1:c.643C=	NP_000521.2:p.Gln215=
NM_000530.7:c.643C=	NP_000521.2:p.Gln215=
NM_001315491.1:c.643C=	NP_001302420.1:p.Gln215=
NM_001315491.2:c.643C=	NP_001302420.1:p.Gln215=
ENST00000463290.5:c.643C=	ENSP00000431538.1:p.Gln215=
ENST00000476410.1:n.103C=
ENST00000488271.1:n.81C=
ENST00000491222.5:c.55C=	ENSP00000431441.1:p.Gln19=
ENST00000526189.2:c.306C=
ENST00000526189.3:c.562C=	ENSP00000488104.2:p.Gln188=
ENST00000533357.4:c.643C=	ENSP00000432943.1:p.Gln215=
ENST00000672287.2:c.55C=	ENSP00000499818.2:p.Gln19=
ENST00000672602.2:c.643C=	ENSP00000500814.2:p.Gln215=
ENST00000674861.1:n.706C=
XM_017001321.2:c.673C=	XP_016856810.1:p.Gln225=