Canonical Allele Identifier: CA1210227
Gene: MPZ HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.161307359G>A
GRCh37 chr1:g.161277149G>A
Revel Score:
ENST00000533357 (MANE Select) 0.282
ENST00000360451 0.282
ENST00000336559 0.282
gnomAD v2:
1:161277149 G / A
gnomAD v3:
1:161307359 G / A
gnomAD v4:
chr1-161307359-G-A
Joint Max Group AF 0.00129177 (AFR)
Genomes Max Group AF 0.00125763 (AFR)
Exomes Max Group AF 0.001137 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161307359G>A , CM000663.2:g.161307359G>A GRCh38
NC_000001.10:g.161277149G>A , CM000663.1:g.161277149G>A GRCh37
NC_000001.9:g.159543773G>A NCBI36
NG_008055.1:g.7614C>T , LRG_256:g.7614C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526189.3:c.133C>T ENSP00000488104.2:p.Arg45Trp
ENST00000533357.5:c.133C>T MANE Select ENSP00000432943.1:p.Arg45Trp
ENST00000672287.2:c.-456C>T ENSP00000499818.2:n.-456C>T
ENST00000672602.2:c.133C>T ENSP00000500814.2:p.Arg45Trp
ENST00000674861.1:n.196C>T
ENST00000463290.5:c.133C>T ENSP00000431538.1:p.Arg45Trp
ENST00000491222.5:c.-456C>T ENSP00000431441.1:n.-456C>T
ENST00000533357.4:c.133C>T ENSP00000432943.1:p.Arg45Trp
NM_000530.6:c.133C>T , LRG_256t1:c.133C>T NP_000521.2:p.Arg45Trp
NM_000530.7:c.133C>T NP_000521.2:p.Arg45Trp
NM_001315491.1:c.133C>T NP_001302420.1:p.Arg45Trp
XM_017001321.2:c.163C>T XP_016856810.1:p.Arg55Trp
NM_000530.8:c.133C>T MANE Select NP_000521.2:p.Arg45Trp
NM_001315491.2:c.133C>T NP_001302420.1:p.Arg45Trp
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