Canonical Allele Identifier: CA343350622

Gene: MPZ

Linked Data

• ClinVar Variation Id: 447727
• ClinVar RCV Id: RCV000516315 ; RCV002525053 ; RCV000790082
• dbSNP Id: rs1553259760
• MyVariant Identifiers: chr1:g.161277089T>C (hg19) ; chr1:g.161307299T>C (hg38)
• PubMed: PMID:15036333 ; PMID:26310628

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307299T>C , CM000663.2:g.161307299T>C	GRCh38
NC_000001.10:g.161277089T>C , CM000663.1:g.161277089T>C	GRCh37
NC_000001.9:g.159543713T>C	NCBI36
NG_008055.1:g.7674A>G , LRG_256:g.7674A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.193A>G	ENSP00000488104.2:p.Thr65Ala
ENST00000533357.5:c.193A>G MANE Select	ENSP00000432943.1:p.Thr65Ala
ENST00000672287.2:c.-396A>G	ENSP00000499818.2:n.-396A>G
ENST00000672602.2:c.193A>G	ENSP00000500814.2:p.Thr65Ala
ENST00000674861.1:n.256A>G
ENST00000463290.5:c.193A>G	ENSP00000431538.1:p.Thr65Ala
ENST00000491222.5:c.-396A>G	ENSP00000431441.1:n.-396A>G
ENST00000533357.4:c.193A>G	ENSP00000432943.1:p.Thr65Ala
NM_000530.6:c.193A>G , LRG_256t1:c.193A>G	NP_000521.2:p.Thr65Ala
NM_000530.7:c.193A>G	NP_000521.2:p.Thr65Ala
NM_001315491.1:c.193A>G	NP_001302420.1:p.Thr65Ala
XM_017001321.2:c.223A>G	XP_016856810.1:p.Thr75Ala
NM_000530.8:c.193A>G MANE Select	NP_000521.2:p.Thr65Ala
NM_001315491.2:c.193A>G	NP_001302420.1:p.Thr65Ala