Canonical Allele Identifier: CA343344430

Gene: MPZ

Linked Data

• ClinVar Variation Id: 462799
• ClinVar RCV Id: RCV000552351 ; RCV001535775
• dbSNP Id: rs1040557288
• gnomAD v2: 1-161275751-G-A
• gnomAD v3: 1-161305961-G-A
• gnomAD v4: 1-161305961-G-A
• MyVariant Identifiers: chr1:g.161275751G>A (hg19) ; chr1:g.161305961G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305961G>A , CM000663.2:g.161305961G>A	GRCh38
NC_000001.10:g.161275751G>A , CM000663.1:g.161275751G>A	GRCh37
NC_000001.9:g.159542375G>A	NCBI36
NG_008055.1:g.9012C>T , LRG_256:g.9012C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.581C>T	ENSP00000488104.2:p.Ala194Val
ENST00000533357.5:c.662C>T MANE Select	ENSP00000432943.1:p.Ala221Val
ENST00000672287.2:c.74C>T	ENSP00000499818.2:p.Ala25Val
ENST00000672602.2:c.662C>T	ENSP00000500814.2:p.Ala221Val
ENST00000674861.1:n.725C>T
ENST00000463290.5:c.662C>T	ENSP00000431538.1:p.Ala221Val
ENST00000476410.1:n.252C>T
ENST00000488271.1:n.100C>T
ENST00000491222.5:c.74C>T	ENSP00000431441.1:p.Ala25Val
ENST00000526189.2:c.325C>T
ENST00000533357.4:c.662C>T	ENSP00000432943.1:p.Ala221Val
NM_000530.6:c.662C>T , LRG_256t1:c.662C>T	NP_000521.2:p.Ala221Val
NM_000530.7:c.662C>T	NP_000521.2:p.Ala221Val
NM_001315491.1:c.662C>T	NP_001302420.1:p.Ala221Val
XM_017001321.2:c.675+147C>T	XP_016856810.1:n.675+147C>T
NM_000530.8:c.662C>T MANE Select	NP_000521.2:p.Ala221Val
NM_001315491.2:c.662C>T	NP_001302420.1:p.Ala221Val