Canonical Allele Identifier: CA421404108

Gene: MPZ

Linked Data

• ClinVar Variation Id: 739540
• ClinVar RCV Id: RCV001421599
• dbSNP Id: rs1571817225
• MyVariant Identifiers: chr1:g.161275758G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305968G>A , CM000663.2:g.161305968G>A	GRCh38
NC_000001.10:g.161275758G>A , CM000663.1:g.161275758G>A	GRCh37
NC_000001.9:g.159542382G>A	NCBI36
NG_008055.1:g.9005C>T , LRG_256:g.9005C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.574C>T	ENSP00000488104.2:p.Leu192=
ENST00000533357.5:c.655C>T MANE Select	ENSP00000432943.1:p.Leu219=
ENST00000672287.2:c.67C>T	ENSP00000499818.2:p.Leu23=
ENST00000672602.2:c.655C>T	ENSP00000500814.2:p.Leu219=
ENST00000674861.1:n.718C>T
ENST00000463290.5:c.655C>T	ENSP00000431538.1:p.Leu219=
ENST00000476410.1:n.245C>T
ENST00000488271.1:n.93C>T
ENST00000491222.5:c.67C>T	ENSP00000431441.1:p.Leu23=
ENST00000526189.2:c.318C>T
ENST00000533357.4:c.655C>T	ENSP00000432943.1:p.Leu219=
NM_000530.6:c.655C>T , LRG_256t1:c.655C>T	NP_000521.2:p.Leu219=
NM_000530.7:c.655C>T	NP_000521.2:p.Leu219=
NM_001315491.1:c.655C>T	NP_001302420.1:p.Leu219=
XM_017001321.2:c.675+140C>T	XP_016856810.1:n.675+140C>T
NM_000530.8:c.655C>T MANE Select	NP_000521.2:p.Leu219=
NM_001315491.2:c.655C>T	NP_001302420.1:p.Leu219=