Canonical Allele Identifier: CA343348732

Gene: MPZ

Linked Data

• ClinVar Variation Id: 462796
• ClinVar RCV Id: RCV000554187 ; RCV003233703
• dbSNP Id: rs1553259649
• MyVariant Identifiers: chr1:g.161276552G>C (hg19) ; chr1:g.161306762G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306762G>C , CM000663.2:g.161306762G>C	GRCh38
NC_000001.10:g.161276552G>C , CM000663.1:g.161276552G>C	GRCh37
NC_000001.9:g.159543176G>C	NCBI36
NG_008055.1:g.8211C>G , LRG_256:g.8211C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+27C>G	ENSP00000488104.2:n.367+27C>G
ENST00000533357.5:c.394C>G MANE Select	ENSP00000432943.1:p.Pro132Ala
ENST00000672287.2:c.-195C>G	ENSP00000499818.2:n.-195C>G
ENST00000672602.2:c.394C>G	ENSP00000500814.2:p.Pro132Ala
ENST00000674861.1:n.457C>G
ENST00000463290.5:c.394C>G	ENSP00000431538.1:p.Pro132Ala
ENST00000491222.5:c.-195C>G	ENSP00000431441.1:n.-195C>G
ENST00000526189.2:c.111+27C>G
ENST00000533357.4:c.394C>G	ENSP00000432943.1:p.Pro132Ala
NM_000530.6:c.394C>G , LRG_256t1:c.394C>G	NP_000521.2:p.Pro132Ala
NM_000530.7:c.394C>G	NP_000521.2:p.Pro132Ala
NM_001315491.1:c.394C>G	NP_001302420.1:p.Pro132Ala
XM_017001321.2:c.424C>G	XP_016856810.1:p.Pro142Ala
NM_000530.8:c.394C>G MANE Select	NP_000521.2:p.Pro132Ala
NM_001315491.2:c.394C>G	NP_001302420.1:p.Pro132Ala