Canonical Allele Identifier: CA351444

Gene: MPZ

Linked Data

• ClinVar Variation Id: 242787
• ClinVar RCV Id: RCV000541724 ; RCV000789491 ; RCV001508018
• dbSNP Id: rs267607241
• MyVariant Identifiers: chr1:g.161276605A>G (hg19) ; chr1:g.161306815A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306815A>G , CM000663.2:g.161306815A>G	GRCh38
NC_000001.10:g.161276605A>G , CM000663.1:g.161276605A>G	GRCh37
NC_000001.9:g.159543229A>G	NCBI36
NG_008055.1:g.8158T>C , LRG_256:g.8158T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.341T>C	ENSP00000488104.2:p.Ile114Thr
ENST00000533357.5:c.341T>C MANE Select	ENSP00000432943.1:p.Ile114Thr
ENST00000672287.2:c.-248T>C	ENSP00000499818.2:n.-248T>C
ENST00000672602.2:c.341T>C	ENSP00000500814.2:p.Ile114Thr
ENST00000674861.1:n.404T>C
ENST00000463290.5:c.341T>C	ENSP00000431538.1:p.Ile114Thr
ENST00000491222.5:c.-248T>C	ENSP00000431441.1:n.-248T>C
ENST00000526189.2:c.85T>C
ENST00000533357.4:c.341T>C	ENSP00000432943.1:p.Ile114Thr
NM_000530.6:c.341T>C , LRG_256t1:c.341T>C	NP_000521.2:p.Ile114Thr
NM_000530.7:c.341T>C	NP_000521.2:p.Ile114Thr
NM_001315491.1:c.341T>C	NP_001302420.1:p.Ile114Thr
XM_017001321.2:c.371T>C	XP_016856810.1:p.Ile124Thr
NM_000530.8:c.341T>C MANE Select	NP_000521.2:p.Ile114Thr
NM_001315491.2:c.341T>C	NP_001302420.1:p.Ile114Thr