Canonical Allele Identifier: CA1143538428

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306427G= , CM000663.2:g.161306427G=	GRCh38
NC_000001.10:g.161276217G= , CM000663.1:g.161276217G=	GRCh37
NC_000001.9:g.159542841G=	NCBI36
NG_008055.1:g.8546C= , LRG_256:g.8546C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000530.8:c.486C= MANE Select	NP_000521.2:p.Ile162=
ENST00000533357.5:c.486C= MANE Select	ENSP00000432943.1:p.Ile162=
NM_000530.6:c.486C= , LRG_256t1:c.486C=	NP_000521.2:p.Ile162=
NM_000530.7:c.486C=	NP_000521.2:p.Ile162=
NM_001315491.1:c.486C=	NP_001302420.1:p.Ile162=
NM_001315491.2:c.486C=	NP_001302420.1:p.Ile162=
ENST00000463290.5:c.486C=	ENSP00000431538.1:p.Ile162=
ENST00000491222.5:c.-103C=	ENSP00000431441.1:n.-103C=
ENST00000526189.2:c.149C=
ENST00000526189.3:c.405C=	ENSP00000488104.2:p.Ile135=
ENST00000533357.4:c.486C=	ENSP00000432943.1:p.Ile162=
ENST00000672287.2:c.-103C=	ENSP00000499818.2:n.-103C=
ENST00000672602.2:c.486C=	ENSP00000500814.2:p.Ile162=
ENST00000674861.1:n.549C=
XM_017001321.2:c.516C=	XP_016856810.1:p.Ile172=