Canonical Allele Identifier: CA421405105

Gene: MPZ

Linked Data

• gnomAD v4: 1-161306769-G-T
• MyVariant Identifiers: chr1:g.161276559G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306769G>T , CM000663.2:g.161306769G>T	GRCh38
NC_000001.10:g.161276559G>T , CM000663.1:g.161276559G>T	GRCh37
NC_000001.9:g.159543183G>T	NCBI36
NG_008055.1:g.8204C>A , LRG_256:g.8204C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+20C>A	ENSP00000488104.2:n.367+20C>A
ENST00000533357.5:c.387C>A MANE Select	ENSP00000432943.1:p.Val129=
ENST00000672287.2:c.-202C>A	ENSP00000499818.2:n.-202C>A
ENST00000672602.2:c.387C>A	ENSP00000500814.2:p.Val129=
ENST00000674861.1:n.450C>A
ENST00000463290.5:c.387C>A	ENSP00000431538.1:p.Val129=
ENST00000491222.5:c.-202C>A	ENSP00000431441.1:n.-202C>A
ENST00000526189.2:c.111+20C>A
ENST00000533357.4:c.387C>A	ENSP00000432943.1:p.Val129=
NM_000530.6:c.387C>A , LRG_256t1:c.387C>A	NP_000521.2:p.Val129=
NM_000530.7:c.387C>A	NP_000521.2:p.Val129=
NM_001315491.1:c.387C>A	NP_001302420.1:p.Val129=
XM_017001321.2:c.417C>A	XP_016856810.1:p.Val139=
NM_000530.8:c.387C>A MANE Select	NP_000521.2:p.Val129=
NM_001315491.2:c.387C>A	NP_001302420.1:p.Val129=