Canonical Allele Identifier: CA343348494

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161276525G>T (hg19) ; chr1:g.161306735G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306735G>T , CM000663.2:g.161306735G>T	GRCh38
NC_000001.10:g.161276525G>T , CM000663.1:g.161276525G>T	GRCh37
NC_000001.9:g.159543149G>T	NCBI36
NG_008055.1:g.8238C>A , LRG_256:g.8238C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+54C>A	ENSP00000488104.2:n.367+54C>A
ENST00000533357.5:c.421C>A MANE Select	ENSP00000432943.1:p.Gln141Lys
ENST00000672287.2:c.-168C>A	ENSP00000499818.2:n.-168C>A
ENST00000672602.2:c.421C>A	ENSP00000500814.2:p.Gln141Lys
ENST00000674861.1:n.484C>A
ENST00000463290.5:c.421C>A	ENSP00000431538.1:p.Gln141Lys
ENST00000491222.5:c.-168C>A	ENSP00000431441.1:n.-168C>A
ENST00000526189.2:c.111+54C>A
ENST00000533357.4:c.421C>A	ENSP00000432943.1:p.Gln141Lys
NM_000530.6:c.421C>A , LRG_256t1:c.421C>A	NP_000521.2:p.Gln141Lys
NM_000530.7:c.421C>A	NP_000521.2:p.Gln141Lys
NM_001315491.1:c.421C>A	NP_001302420.1:p.Gln141Lys
XM_017001321.2:c.451C>A	XP_016856810.1:p.Gln151Lys
NM_000530.8:c.421C>A MANE Select	NP_000521.2:p.Gln141Lys
NM_001315491.2:c.421C>A	NP_001302420.1:p.Gln141Lys