Canonical Allele Identifier: CA343348195

Gene: MPZ

Linked Data

• gnomAD v4: 1-161306717-A-G
• MyVariant Identifiers: chr1:g.161276507A>G (hg19) ; chr1:g.161306717A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306717A>G , CM000663.2:g.161306717A>G	GRCh38
NC_000001.10:g.161276507A>G , CM000663.1:g.161276507A>G	GRCh37
NC_000001.9:g.159543131A>G	NCBI36
NG_008055.1:g.8256T>C , LRG_256:g.8256T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+72T>C	ENSP00000488104.2:n.367+72T>C
ENST00000533357.5:c.439T>C MANE Select	ENSP00000432943.1:p.Phe147Leu
ENST00000672287.2:c.-150T>C	ENSP00000499818.2:n.-150T>C
ENST00000672602.2:c.439T>C	ENSP00000500814.2:p.Phe147Leu
ENST00000674861.1:n.502T>C
ENST00000463290.5:c.439T>C	ENSP00000431538.1:p.Phe147Leu
ENST00000491222.5:c.-150T>C	ENSP00000431441.1:n.-150T>C
ENST00000526189.2:c.111+72T>C
ENST00000533357.4:c.439T>C	ENSP00000432943.1:p.Phe147Leu
NM_000530.6:c.439T>C , LRG_256t1:c.439T>C	NP_000521.2:p.Phe147Leu
NM_000530.7:c.439T>C	NP_000521.2:p.Phe147Leu
NM_001315491.1:c.439T>C	NP_001302420.1:p.Phe147Leu
XM_017001321.2:c.469T>C	XP_016856810.1:p.Phe157Leu
NM_000530.8:c.439T>C MANE Select	NP_000521.2:p.Phe147Leu
NM_001315491.2:c.439T>C	NP_001302420.1:p.Phe147Leu