Canonical Allele Identifier: CA1210218

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307293G>A , CM000663.2:g.161307293G>A	GRCh38
NC_000001.10:g.161277083G>A , CM000663.1:g.161277083G>A	GRCh37
NC_000001.9:g.159543707G>A	NCBI36
NG_008055.1:g.7680C>T , LRG_256:g.7680C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.199C>T	ENSP00000488104.2:p.Arg67Cys
ENST00000533357.5:c.199C>T MANE Select	ENSP00000432943.1:p.Arg67Cys
ENST00000672287.2:c.-390C>T	ENSP00000499818.2:n.-390C>T
ENST00000672602.2:c.199C>T	ENSP00000500814.2:p.Arg67Cys
ENST00000674861.1:n.262C>T
ENST00000463290.5:c.199C>T	ENSP00000431538.1:p.Arg67Cys
ENST00000491222.5:c.-390C>T	ENSP00000431441.1:n.-390C>T
ENST00000533357.4:c.199C>T	ENSP00000432943.1:p.Arg67Cys
NM_000530.6:c.199C>T , LRG_256t1:c.199C>T	NP_000521.2:p.Arg67Cys
NM_000530.7:c.199C>T	NP_000521.2:p.Arg67Cys
NM_001315491.1:c.199C>T	NP_001302420.1:p.Arg67Cys
XM_017001321.2:c.229C>T	XP_016856810.1:p.Arg77Cys
NM_000530.8:c.199C>T MANE Select	NP_000521.2:p.Arg67Cys
NM_001315491.2:c.199C>T	NP_001302420.1:p.Arg67Cys