Canonical Allele Identifier: CA343351524

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2776393
• ClinVar RCV Id: RCV003741364 ; RCV004371496
• dbSNP Id: rs1322340264
• gnomAD v2: 1-161277177-G-T
• gnomAD v4: 1-161307387-G-T
• MyVariant Identifiers: chr1:g.161277177G>T (hg19) ; chr1:g.161307387G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307387G>T , CM000663.2:g.161307387G>T	GRCh38
NC_000001.10:g.161277177G>T , CM000663.1:g.161277177G>T	GRCh37
NC_000001.9:g.159543801G>T	NCBI36
NG_008055.1:g.7586C>A , LRG_256:g.7586C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.105C>A	ENSP00000488104.2:p.Asp35Glu
ENST00000533357.5:c.105C>A MANE Select	ENSP00000432943.1:p.Asp35Glu
ENST00000672287.2:c.-484C>A	ENSP00000499818.2:n.-484C>A
ENST00000672602.2:c.105C>A	ENSP00000500814.2:p.Asp35Glu
ENST00000674861.1:n.168C>A
ENST00000463290.5:c.105C>A	ENSP00000431538.1:p.Asp35Glu
ENST00000491222.5:c.-484C>A	ENSP00000431441.1:n.-484C>A
ENST00000533357.4:c.105C>A	ENSP00000432943.1:p.Asp35Glu
NM_000530.6:c.105C>A , LRG_256t1:c.105C>A	NP_000521.2:p.Asp35Glu
NM_000530.7:c.105C>A	NP_000521.2:p.Asp35Glu
NM_001315491.1:c.105C>A	NP_001302420.1:p.Asp35Glu
XM_017001321.2:c.135C>A	XP_016856810.1:p.Asp45Glu
NM_000530.8:c.105C>A MANE Select	NP_000521.2:p.Asp35Glu
NM_001315491.2:c.105C>A	NP_001302420.1:p.Asp35Glu