Canonical Allele Identifier: CA343343870

Gene: MPZ

Linked Data

• gnomAD v4: 1-161305896-A-T
• COSMIC: COSM6215075 ; COSM6215076
• MyVariant Identifiers: chr1:g.161275686A>T (hg19) ; chr1:g.161305896A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305896A>T , CM000663.2:g.161305896A>T	GRCh38
NC_000001.10:g.161275686A>T , CM000663.1:g.161275686A>T	GRCh37
NC_000001.9:g.159542310A>T	NCBI36
NG_008055.1:g.9077T>A , LRG_256:g.9077T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.646T>A	ENSP00000488104.2:p.Ser216Thr
ENST00000533357.5:c.727T>A MANE Select	ENSP00000432943.1:p.Ser243Thr
ENST00000672287.2:c.139T>A	ENSP00000499818.2:p.Ser47Thr
ENST00000672602.2:c.727T>A	ENSP00000500814.2:p.Ser243Thr
ENST00000674861.1:n.790T>A
ENST00000463290.5:c.727T>A	ENSP00000431538.1:p.Ser243Thr
ENST00000476410.1:n.317T>A
ENST00000488271.1:n.165T>A
ENST00000491222.5:c.139T>A	ENSP00000431441.1:p.Ser47Thr
ENST00000526189.2:c.390T>A
ENST00000533357.4:c.727T>A	ENSP00000432943.1:p.Ser243Thr
NM_000530.6:c.727T>A , LRG_256t1:c.727T>A	NP_000521.2:p.Ser243Thr
NM_000530.7:c.727T>A	NP_000521.2:p.Ser243Thr
NM_001315491.1:c.727T>A	NP_001302420.1:p.Ser243Thr
XM_017001321.2:c.675+212T>A	XP_016856810.1:n.675+212T>A
NM_000530.8:c.727T>A MANE Select	NP_000521.2:p.Ser243Thr
NM_001315491.2:c.727T>A	NP_001302420.1:p.Ser243Thr