Canonical Allele Identifier: CA343348829

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2135745
• ClinVar RCV Id: RCV003048775
• MyVariant Identifiers: chr1:g.161276561C>A (hg19) ; chr1:g.161306771C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306771C>A , CM000663.2:g.161306771C>A	GRCh38
NC_000001.10:g.161276561C>A , CM000663.1:g.161276561C>A	GRCh37
NC_000001.9:g.159543185C>A	NCBI36
NG_008055.1:g.8202G>T , LRG_256:g.8202G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+18G>T	ENSP00000488104.2:n.367+18G>T
ENST00000533357.5:c.385G>T MANE Select	ENSP00000432943.1:p.Val129Phe
ENST00000672287.2:c.-204G>T	ENSP00000499818.2:n.-204G>T
ENST00000672602.2:c.385G>T	ENSP00000500814.2:p.Val129Phe
ENST00000674861.1:n.448G>T
ENST00000463290.5:c.385G>T	ENSP00000431538.1:p.Val129Phe
ENST00000491222.5:c.-204G>T	ENSP00000431441.1:n.-204G>T
ENST00000526189.2:c.111+18G>T
ENST00000533357.4:c.385G>T	ENSP00000432943.1:p.Val129Phe
NM_000530.6:c.385G>T , LRG_256t1:c.385G>T	NP_000521.2:p.Val129Phe
NM_000530.7:c.385G>T	NP_000521.2:p.Val129Phe
NM_001315491.1:c.385G>T	NP_001302420.1:p.Val129Phe
XM_017001321.2:c.415G>T	XP_016856810.1:p.Val139Phe
NM_000530.8:c.385G>T MANE Select	NP_000521.2:p.Val129Phe
NM_001315491.2:c.385G>T	NP_001302420.1:p.Val129Phe