Canonical Allele Identifier: CA421404325
Gene: MPZ HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.161275928T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161306138T>A , CM000663.2:g.161306138T>A GRCh38
NC_000001.10:g.161275928T>A , CM000663.1:g.161275928T>A GRCh37
NC_000001.9:g.159542552T>A NCBI36
NG_008055.1:g.8835A>T , LRG_256:g.8835A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.534A>T ENSP00000488104.2:p.Pro178=
ENST00000533357.5:c.615A>T MANE Select ENSP00000432943.1:p.Pro205=
ENST00000672287.2:c.27A>T ENSP00000499818.2:p.Pro9=
ENST00000672602.2:c.615A>T ENSP00000500814.2:p.Pro205=
ENST00000674861.1:n.678A>T
ENST00000463290.5:c.615A>T ENSP00000431538.1:p.Pro205=
ENST00000476410.1:n.75A>T
ENST00000488271.1:n.53A>T
ENST00000491222.5:c.27A>T ENSP00000431441.1:p.Pro9=
ENST00000526189.2:c.278A>T
ENST00000533357.4:c.615A>T ENSP00000432943.1:p.Pro205=
NM_000530.6:c.615A>T , LRG_256t1:c.615A>T NP_000521.2:p.Pro205=
NM_000530.7:c.615A>T NP_000521.2:p.Pro205=
NM_001315491.1:c.615A>T NP_001302420.1:p.Pro205=
XM_017001321.2:c.645A>T XP_016856810.1:p.Pro215=
NM_000530.8:c.615A>T MANE Select NP_000521.2:p.Pro205=
NM_001315491.2:c.615A>T NP_001302420.1:p.Pro205=