Canonical Allele Identifier: CA1202687969
Gene: MPZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161305969C= , CM000663.2:g.161305969C= GRCh38
NC_000001.10:g.161275759C= , CM000663.1:g.161275759C= GRCh37
NC_000001.9:g.159542383C= NCBI36
NG_008055.1:g.9004G= , LRG_256:g.9004G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.573G= ENSP00000488104.2:p.Val191=
ENST00000533357.5:c.654G= MANE Select ENSP00000432943.1:p.Val218=
ENST00000672287.2:c.66G= ENSP00000499818.2:p.Val22=
ENST00000672602.2:c.654G= ENSP00000500814.2:p.Val218=
ENST00000674861.1:n.717G=
ENST00000463290.5:c.654G= ENSP00000431538.1:p.Val218=
ENST00000476410.1:n.244G=
ENST00000488271.1:n.92G=
ENST00000491222.5:c.66G= ENSP00000431441.1:p.Val22=
ENST00000526189.2:c.317G=
ENST00000533357.4:c.654G= ENSP00000432943.1:p.Val218=
NM_000530.6:c.654G= , LRG_256t1:c.654G= NP_000521.2:p.Val218=
NM_000530.7:c.654G= NP_000521.2:p.Val218=
NM_001315491.1:c.654G= NP_001302420.1:p.Val218=
XM_017001321.2:c.675+139G= XP_016856810.1:n.675+139G=
NM_000530.8:c.654G= MANE Select NP_000521.2:p.Val218=
NM_001315491.2:c.654G= NP_001302420.1:p.Val218=