Canonical Allele Identifier: CA343344611

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2983691
• ClinVar RCV Id: RCV003840786
• gnomAD v4: 1-161306112-C-A
• MyVariant Identifiers: chr1:g.161275902C>A (hg19) ; chr1:g.161306112C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306112C>A , CM000663.2:g.161306112C>A	GRCh38
NC_000001.10:g.161275902C>A , CM000663.1:g.161275902C>A	GRCh37
NC_000001.9:g.159542526C>A	NCBI36
NG_008055.1:g.8861G>T , LRG_256:g.8861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.560G>T	ENSP00000488104.2:p.Arg187Leu
ENST00000533357.5:c.641G>T MANE Select	ENSP00000432943.1:p.Arg214Leu
ENST00000672287.2:c.53G>T	ENSP00000499818.2:p.Arg18Leu
ENST00000672602.2:c.641G>T	ENSP00000500814.2:p.Arg214Leu
ENST00000674861.1:n.704G>T
ENST00000463290.5:c.641G>T	ENSP00000431538.1:p.Arg214Leu
ENST00000476410.1:n.101G>T
ENST00000488271.1:n.79G>T
ENST00000491222.5:c.53G>T	ENSP00000431441.1:p.Arg18Leu
ENST00000526189.2:c.304G>T
ENST00000533357.4:c.641G>T	ENSP00000432943.1:p.Arg214Leu
NM_000530.6:c.641G>T , LRG_256t1:c.641G>T	NP_000521.2:p.Arg214Leu
NM_000530.7:c.641G>T	NP_000521.2:p.Arg214Leu
NM_001315491.1:c.641G>T	NP_001302420.1:p.Arg214Leu
XM_017001321.2:c.671G>T	XP_016856810.1:p.Arg224Leu
NM_000530.8:c.641G>T MANE Select	NP_000521.2:p.Arg214Leu
NM_001315491.2:c.641G>T	NP_001302420.1:p.Arg214Leu