Canonical Allele Identifier: CA204850

Gene: MPZ

Linked Data

• ClinVar Variation Id: 208765
• ClinVar RCV Id: RCV000190787 ; RCV001852535
• dbSNP Id: rs797044941
• MyVariant Identifiers: chr1:g.161276566C>G (hg19) ; chr1:g.161306776C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306776C>G , CM000663.2:g.161306776C>G	GRCh38
NC_000001.10:g.161276566C>G , CM000663.1:g.161276566C>G	GRCh37
NC_000001.9:g.159543190C>G	NCBI36
NG_008055.1:g.8197G>C , LRG_256:g.8197G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+13G>C	ENSP00000488104.2:n.367+13G>C
ENST00000533357.5:c.380G>C MANE Select	ENSP00000432943.1:p.Cys127Ser
ENST00000672287.2:c.-209G>C	ENSP00000499818.2:n.-209G>C
ENST00000672602.2:c.380G>C	ENSP00000500814.2:p.Cys127Ser
ENST00000674861.1:n.443G>C
ENST00000463290.5:c.380G>C	ENSP00000431538.1:p.Cys127Ser
ENST00000491222.5:c.-209G>C	ENSP00000431441.1:n.-209G>C
ENST00000526189.2:c.111+13G>C
ENST00000533357.4:c.380G>C	ENSP00000432943.1:p.Cys127Ser
NM_000530.6:c.380G>C , LRG_256t1:c.380G>C	NP_000521.2:p.Cys127Ser
NM_000530.7:c.380G>C	NP_000521.2:p.Cys127Ser
NM_001315491.1:c.380G>C	NP_001302420.1:p.Cys127Ser
XM_017001321.2:c.410G>C	XP_016856810.1:p.Cys137Ser
NM_000530.8:c.380G>C MANE Select	NP_000521.2:p.Cys127Ser
NM_001315491.2:c.380G>C	NP_001302420.1:p.Cys127Ser