Canonical Allele Identifier: CA1210232

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2728970
• ClinVar RCV Id: RCV003581280
• dbSNP Id: rs770546306
• ExAC: 1:161277192 G / A
• gnomAD v2: 1-161277192-G-A
• gnomAD v4: 1-161307402-G-A
• MyVariant Identifiers: chr1:g.161277192G>A (hg19) ; chr1:g.161307402G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307402G>A , CM000663.2:g.161307402G>A	GRCh38
NC_000001.10:g.161277192G>A , CM000663.1:g.161277192G>A	GRCh37
NC_000001.9:g.159543816G>A	NCBI36
NG_008055.1:g.7571C>T , LRG_256:g.7571C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.90C>T	ENSP00000488104.2:p.Ile30=
ENST00000533357.5:c.90C>T MANE Select	ENSP00000432943.1:p.Ile30=
ENST00000672287.2:c.-499C>T	ENSP00000499818.2:n.-499C>T
ENST00000672602.2:c.90C>T	ENSP00000500814.2:p.Ile30=
ENST00000674861.1:n.153C>T
ENST00000463290.5:c.90C>T	ENSP00000431538.1:p.Ile30=
ENST00000491222.5:c.-499C>T	ENSP00000431441.1:n.-499C>T
ENST00000533357.4:c.90C>T	ENSP00000432943.1:p.Ile30=
NM_000530.6:c.90C>T , LRG_256t1:c.90C>T	NP_000521.2:p.Ile30=
NM_000530.7:c.90C>T	NP_000521.2:p.Ile30=
NM_001315491.1:c.90C>T	NP_001302420.1:p.Ile30=
XM_017001321.2:c.120C>T	XP_016856810.1:p.Ile40=
NM_000530.8:c.90C>T MANE Select	NP_000521.2:p.Ile30=
NM_001315491.2:c.90C>T	NP_001302420.1:p.Ile30=