Canonical Allele Identifier: CA343344732

Gene: MPZ

Linked Data

• dbSNP Id: rs571896811
• gnomAD v2: 1-161275918-C-T
• gnomAD v4: 1-161306128-C-T
• MyVariant Identifiers: chr1:g.161275918C>T (hg19) ; chr1:g.161306128C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306128C>T , CM000663.2:g.161306128C>T	GRCh38
NC_000001.10:g.161275918C>T , CM000663.1:g.161275918C>T	GRCh37
NC_000001.9:g.159542542C>T	NCBI36
NG_008055.1:g.8845G>A , LRG_256:g.8845G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.544G>A	ENSP00000488104.2:p.Ala182Thr
ENST00000533357.5:c.625G>A MANE Select	ENSP00000432943.1:p.Ala209Thr
ENST00000672287.2:c.37G>A	ENSP00000499818.2:p.Ala13Thr
ENST00000672602.2:c.625G>A	ENSP00000500814.2:p.Ala209Thr
ENST00000674861.1:n.688G>A
ENST00000463290.5:c.625G>A	ENSP00000431538.1:p.Ala209Thr
ENST00000476410.1:n.85G>A
ENST00000488271.1:n.63G>A
ENST00000491222.5:c.37G>A	ENSP00000431441.1:p.Ala13Thr
ENST00000526189.2:c.288G>A
ENST00000533357.4:c.625G>A	ENSP00000432943.1:p.Ala209Thr
NM_000530.6:c.625G>A , LRG_256t1:c.625G>A	NP_000521.2:p.Ala209Thr
NM_000530.7:c.625G>A	NP_000521.2:p.Ala209Thr
NM_001315491.1:c.625G>A	NP_001302420.1:p.Ala209Thr
XM_017001321.2:c.655G>A	XP_016856810.1:p.Ala219Thr
NM_000530.8:c.625G>A MANE Select	NP_000521.2:p.Ala209Thr
NM_001315491.2:c.625G>A	NP_001302420.1:p.Ala209Thr