Canonical Allele Identifier: CA343343936

Gene: MPZ

Linked Data

• ClinVar Variation Id: 3203638
• ClinVar RCV Id: RCV004496455
• gnomAD v4: 1-161305904-A-T
• MyVariant Identifiers: chr1:g.161275694A>T (hg19) ; chr1:g.161305904A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305904A>T , CM000663.2:g.161305904A>T	GRCh38
NC_000001.10:g.161275694A>T , CM000663.1:g.161275694A>T	GRCh37
NC_000001.9:g.159542318A>T	NCBI36
NG_008055.1:g.9069T>A , LRG_256:g.9069T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.638T>A	ENSP00000488104.2:p.Leu213Gln
ENST00000533357.5:c.719T>A MANE Select	ENSP00000432943.1:p.Leu240Gln
ENST00000672287.2:c.131T>A	ENSP00000499818.2:p.Leu44Gln
ENST00000672602.2:c.719T>A	ENSP00000500814.2:p.Leu240Gln
ENST00000674861.1:n.782T>A
ENST00000463290.5:c.719T>A	ENSP00000431538.1:p.Leu240Gln
ENST00000476410.1:n.309T>A
ENST00000488271.1:n.157T>A
ENST00000491222.5:c.131T>A	ENSP00000431441.1:p.Leu44Gln
ENST00000526189.2:c.382T>A
ENST00000533357.4:c.719T>A	ENSP00000432943.1:p.Leu240Gln
NM_000530.6:c.719T>A , LRG_256t1:c.719T>A	NP_000521.2:p.Leu240Gln
NM_000530.7:c.719T>A	NP_000521.2:p.Leu240Gln
NM_001315491.1:c.719T>A	NP_001302420.1:p.Leu240Gln
XM_017001321.2:c.675+204T>A	XP_016856810.1:n.675+204T>A
NM_000530.8:c.719T>A MANE Select	NP_000521.2:p.Leu240Gln
NM_001315491.2:c.719T>A	NP_001302420.1:p.Leu240Gln