Canonical Allele Identifier: CA343349216

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1912513
• ClinVar RCV Id: RCV002578866 ; RCV003482415
• MyVariant Identifiers: chr1:g.161276597G>T (hg19) ; chr1:g.161306807G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306807G>T , CM000663.2:g.161306807G>T	GRCh38
NC_000001.10:g.161276597G>T , CM000663.1:g.161276597G>T	GRCh37
NC_000001.9:g.159543221G>T	NCBI36
NG_008055.1:g.8166C>A , LRG_256:g.8166C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.349C>A	ENSP00000488104.2:p.Leu117Ile
ENST00000533357.5:c.349C>A MANE Select	ENSP00000432943.1:p.Leu117Ile
ENST00000672287.2:c.-240C>A	ENSP00000499818.2:n.-240C>A
ENST00000672602.2:c.349C>A	ENSP00000500814.2:p.Leu117Ile
ENST00000674861.1:n.412C>A
ENST00000463290.5:c.349C>A	ENSP00000431538.1:p.Leu117Ile
ENST00000491222.5:c.-240C>A	ENSP00000431441.1:n.-240C>A
ENST00000526189.2:c.93C>A
ENST00000533357.4:c.349C>A	ENSP00000432943.1:p.Leu117Ile
NM_000530.6:c.349C>A , LRG_256t1:c.349C>A	NP_000521.2:p.Leu117Ile
NM_000530.7:c.349C>A	NP_000521.2:p.Leu117Ile
NM_001315491.1:c.349C>A	NP_001302420.1:p.Leu117Ile
XM_017001321.2:c.379C>A	XP_016856810.1:p.Leu127Ile
NM_000530.8:c.349C>A MANE Select	NP_000521.2:p.Leu117Ile
NM_001315491.2:c.349C>A	NP_001302420.1:p.Leu117Ile