Canonical Allele Identifier: CA257162

Gene: MPZ

Linked Data

• ClinVar Variation Id: 14185
• ClinVar RCV Id: RCV000015249 ; RCV000190345 ; RCV000638152 ; RCV001093014 ; RCV000790099 ; RCV002381251
• dbSNP Id: rs121913598
• MyVariant Identifiers: chr1:g.161277151G>A (hg19) ; chr1:g.161307361G>A (hg38)
• PubMed: PMID:9595994 ; PMID:20301384

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307361G>A , CM000663.2:g.161307361G>A	GRCh38
NC_000001.10:g.161277151G>A , CM000663.1:g.161277151G>A	GRCh37
NC_000001.9:g.159543775G>A	NCBI36
NG_008055.1:g.7612C>T , LRG_256:g.7612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.131C>T	ENSP00000488104.2:p.Ser44Phe
ENST00000533357.5:c.131C>T MANE Select	ENSP00000432943.1:p.Ser44Phe
ENST00000672287.2:c.-458C>T	ENSP00000499818.2:n.-458C>T
ENST00000672602.2:c.131C>T	ENSP00000500814.2:p.Ser44Phe
ENST00000674861.1:n.194C>T
ENST00000463290.5:c.131C>T	ENSP00000431538.1:p.Ser44Phe
ENST00000491222.5:c.-458C>T	ENSP00000431441.1:n.-458C>T
ENST00000533357.4:c.131C>T	ENSP00000432943.1:p.Ser44Phe
NM_000530.6:c.131C>T , LRG_256t1:c.131C>T	NP_000521.2:p.Ser44Phe
NM_000530.7:c.131C>T	NP_000521.2:p.Ser44Phe
NM_001315491.1:c.131C>T	NP_001302420.1:p.Ser44Phe
XM_017001321.2:c.161C>T	XP_016856810.1:p.Ser54Phe
NM_000530.8:c.131C>T MANE Select	NP_000521.2:p.Ser44Phe
NM_001315491.2:c.131C>T	NP_001302420.1:p.Ser44Phe