Canonical Allele Identifier: CA343349296

Gene: MPZ

Linked Data

• ClinVar Variation Id: 462794
• ClinVar RCV Id: RCV000549580
• dbSNP Id: rs1553259664
• MyVariant Identifiers: chr1:g.161276615A>G (hg19) ; chr1:g.161306825A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306825A>G , CM000663.2:g.161306825A>G	GRCh38
NC_000001.10:g.161276615A>G , CM000663.1:g.161276615A>G	GRCh37
NC_000001.9:g.159543239A>G	NCBI36
NG_008055.1:g.8148T>C , LRG_256:g.8148T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.331T>C	ENSP00000488104.2:p.Ser111Pro
ENST00000533357.5:c.331T>C MANE Select	ENSP00000432943.1:p.Ser111Pro
ENST00000672287.2:c.-258T>C	ENSP00000499818.2:n.-258T>C
ENST00000672602.2:c.331T>C	ENSP00000500814.2:p.Ser111Pro
ENST00000674861.1:n.394T>C
ENST00000463290.5:c.331T>C	ENSP00000431538.1:p.Ser111Pro
ENST00000491222.5:c.-258T>C	ENSP00000431441.1:n.-258T>C
ENST00000526189.2:c.75T>C
ENST00000533357.4:c.331T>C	ENSP00000432943.1:p.Ser111Pro
NM_000530.6:c.331T>C , LRG_256t1:c.331T>C	NP_000521.2:p.Ser111Pro
NM_000530.7:c.331T>C	NP_000521.2:p.Ser111Pro
NM_001315491.1:c.331T>C	NP_001302420.1:p.Ser111Pro
XM_017001321.2:c.361T>C	XP_016856810.1:p.Ser121Pro
NM_000530.8:c.331T>C MANE Select	NP_000521.2:p.Ser111Pro
NM_001315491.2:c.331T>C	NP_001302420.1:p.Ser111Pro