Canonical Allele Identifier: CA343349338

Gene: MPZ

Linked Data

• ClinVar Variation Id: 860734
• ClinVar RCV Id: RCV001067101
• dbSNP Id: rs1060503420
• MyVariant Identifiers: chr1:g.161276621C>G (hg19) ; chr1:g.161306831C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306831C>G , CM000663.2:g.161306831C>G	GRCh38
NC_000001.10:g.161276621C>G , CM000663.1:g.161276621C>G	GRCh37
NC_000001.9:g.159543245C>G	NCBI36
NG_008055.1:g.8142G>C , LRG_256:g.8142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.325G>C	ENSP00000488104.2:p.Asp109His
ENST00000533357.5:c.325G>C MANE Select	ENSP00000432943.1:p.Asp109His
ENST00000672287.2:c.-264G>C	ENSP00000499818.2:n.-264G>C
ENST00000672602.2:c.325G>C	ENSP00000500814.2:p.Asp109His
ENST00000674861.1:n.388G>C
ENST00000463290.5:c.325G>C	ENSP00000431538.1:p.Asp109His
ENST00000491222.5:c.-264G>C	ENSP00000431441.1:n.-264G>C
ENST00000526189.2:c.69G>C
ENST00000533357.4:c.325G>C	ENSP00000432943.1:p.Asp109His
NM_000530.6:c.325G>C , LRG_256t1:c.325G>C	NP_000521.2:p.Asp109His
NM_000530.7:c.325G>C	NP_000521.2:p.Asp109His
NM_001315491.1:c.325G>C	NP_001302420.1:p.Asp109His
XM_017001321.2:c.355G>C	XP_016856810.1:p.Asp119His
NM_000530.8:c.325G>C MANE Select	NP_000521.2:p.Asp109His
NM_001315491.2:c.325G>C	NP_001302420.1:p.Asp109His