Canonical Allele Identifier: CA421405190

Gene: MPZ

Linked Data

• ClinVar Variation Id: 1617257
• ClinVar RCV Id: RCV002076469
• dbSNP Id: rs2102258993
• gnomAD v4: 1-161306823-G-A
• MyVariant Identifiers: chr1:g.161276613G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306823G>A , CM000663.2:g.161306823G>A	GRCh38
NC_000001.10:g.161276613G>A , CM000663.1:g.161276613G>A	GRCh37
NC_000001.9:g.159543237G>A	NCBI36
NG_008055.1:g.8150C>T , LRG_256:g.8150C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.333C>T	ENSP00000488104.2:p.Ser111=
ENST00000533357.5:c.333C>T MANE Select	ENSP00000432943.1:p.Ser111=
ENST00000672287.2:c.-256C>T	ENSP00000499818.2:n.-256C>T
ENST00000672602.2:c.333C>T	ENSP00000500814.2:p.Ser111=
ENST00000674861.1:n.396C>T
ENST00000463290.5:c.333C>T	ENSP00000431538.1:p.Ser111=
ENST00000491222.5:c.-256C>T	ENSP00000431441.1:n.-256C>T
ENST00000526189.2:c.77C>T
ENST00000533357.4:c.333C>T	ENSP00000432943.1:p.Ser111=
NM_000530.6:c.333C>T , LRG_256t1:c.333C>T	NP_000521.2:p.Ser111=
NM_000530.7:c.333C>T	NP_000521.2:p.Ser111=
NM_001315491.1:c.333C>T	NP_001302420.1:p.Ser111=
XM_017001321.2:c.363C>T	XP_016856810.1:p.Ser121=
NM_000530.8:c.333C>T MANE Select	NP_000521.2:p.Ser111=
NM_001315491.2:c.333C>T	NP_001302420.1:p.Ser111=