Canonical Allele Identifier: CA343348221

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637789
• ClinVar RCV Id: RCV000790106
• dbSNP Id: rs1571818627
• MyVariant Identifiers: chr1:g.161276510C>A (hg19) ; chr1:g.161306720C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306720C>A , CM000663.2:g.161306720C>A	GRCh38
NC_000001.10:g.161276510C>A , CM000663.1:g.161276510C>A	GRCh37
NC_000001.9:g.159543134C>A	NCBI36
NG_008055.1:g.8253G>T , LRG_256:g.8253G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+69G>T	ENSP00000488104.2:n.367+69G>T
ENST00000533357.5:c.436G>T MANE Select	ENSP00000432943.1:p.Val146Phe
ENST00000672287.2:c.-153G>T	ENSP00000499818.2:n.-153G>T
ENST00000672602.2:c.436G>T	ENSP00000500814.2:p.Val146Phe
ENST00000674861.1:n.499G>T
ENST00000463290.5:c.436G>T	ENSP00000431538.1:p.Val146Phe
ENST00000491222.5:c.-153G>T	ENSP00000431441.1:n.-153G>T
ENST00000526189.2:c.111+69G>T
ENST00000533357.4:c.436G>T	ENSP00000432943.1:p.Val146Phe
NM_000530.6:c.436G>T , LRG_256t1:c.436G>T	NP_000521.2:p.Val146Phe
NM_000530.7:c.436G>T	NP_000521.2:p.Val146Phe
NM_001315491.1:c.436G>T	NP_001302420.1:p.Val146Phe
XM_017001321.2:c.466G>T	XP_016856810.1:p.Val156Phe
NM_000530.8:c.436G>T MANE Select	NP_000521.2:p.Val146Phe
NM_001315491.2:c.436G>T	NP_001302420.1:p.Val146Phe