Canonical Allele Identifier: CA343349196

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161276596A>T (hg19) ; chr1:g.161306806A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306806A>T , CM000663.2:g.161306806A>T	GRCh38
NC_000001.10:g.161276596A>T , CM000663.1:g.161276596A>T	GRCh37
NC_000001.9:g.159543220A>T	NCBI36
NG_008055.1:g.8167T>A , LRG_256:g.8167T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.350T>A	ENSP00000488104.2:p.Leu117Gln
ENST00000533357.5:c.350T>A MANE Select	ENSP00000432943.1:p.Leu117Gln
ENST00000672287.2:c.-239T>A	ENSP00000499818.2:n.-239T>A
ENST00000672602.2:c.350T>A	ENSP00000500814.2:p.Leu117Gln
ENST00000674861.1:n.413T>A
ENST00000463290.5:c.350T>A	ENSP00000431538.1:p.Leu117Gln
ENST00000491222.5:c.-239T>A	ENSP00000431441.1:n.-239T>A
ENST00000526189.2:c.94T>A
ENST00000533357.4:c.350T>A	ENSP00000432943.1:p.Leu117Gln
NM_000530.6:c.350T>A , LRG_256t1:c.350T>A	NP_000521.2:p.Leu117Gln
NM_000530.7:c.350T>A	NP_000521.2:p.Leu117Gln
NM_001315491.1:c.350T>A	NP_001302420.1:p.Leu117Gln
XM_017001321.2:c.380T>A	XP_016856810.1:p.Leu127Gln
NM_000530.8:c.350T>A MANE Select	NP_000521.2:p.Leu117Gln
NM_001315491.2:c.350T>A	NP_001302420.1:p.Leu117Gln