Canonical Allele Identifier: CA343348701

Gene: MPZ

Linked Data

• ClinVar Variation Id: 462797
• ClinVar RCV Id: RCV000525895 ; RCV000763261
• dbSNP Id: rs1553259648
• MyVariant Identifiers: chr1:g.161276549G>T (hg19) ; chr1:g.161306759G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306759G>T , CM000663.2:g.161306759G>T	GRCh38
NC_000001.10:g.161276549G>T , CM000663.1:g.161276549G>T	GRCh37
NC_000001.9:g.159543173G>T	NCBI36
NG_008055.1:g.8214C>A , LRG_256:g.8214C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+30C>A	ENSP00000488104.2:n.367+30C>A
ENST00000533357.5:c.397C>A MANE Select	ENSP00000432943.1:p.Pro133Thr
ENST00000672287.2:c.-192C>A	ENSP00000499818.2:n.-192C>A
ENST00000672602.2:c.397C>A	ENSP00000500814.2:p.Pro133Thr
ENST00000674861.1:n.460C>A
ENST00000463290.5:c.397C>A	ENSP00000431538.1:p.Pro133Thr
ENST00000491222.5:c.-192C>A	ENSP00000431441.1:n.-192C>A
ENST00000526189.2:c.111+30C>A
ENST00000533357.4:c.397C>A	ENSP00000432943.1:p.Pro133Thr
NM_000530.6:c.397C>A , LRG_256t1:c.397C>A	NP_000521.2:p.Pro133Thr
NM_000530.7:c.397C>A	NP_000521.2:p.Pro133Thr
NM_001315491.1:c.397C>A	NP_001302420.1:p.Pro133Thr
XM_017001321.2:c.427C>A	XP_016856810.1:p.Pro143Thr
NM_000530.8:c.397C>A MANE Select	NP_000521.2:p.Pro133Thr
NM_001315491.2:c.397C>A	NP_001302420.1:p.Pro133Thr