Canonical Allele Identifier: CA1210210

Gene: MPZ

Linked Data

• ClinVar Variation Id: 958383
• ClinVar RCV Id: RCV001231540 ; RCV001329968 ; RCV002447158 ; RCV003482910
• dbSNP Id: rs368149365
• ExAC: 1:161277048 C / T
• gnomAD v2: 1-161277048-C-T
• gnomAD v3: 1-161307258-C-T
• gnomAD v4: 1-161307258-C-T
• MyVariant Identifiers: chr1:g.161277048C>T (hg19) ; chr1:g.161307258C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307258C>T , CM000663.2:g.161307258C>T	GRCh38
NC_000001.10:g.161277048C>T , CM000663.1:g.161277048C>T	GRCh37
NC_000001.9:g.159543672C>T	NCBI36
NG_008055.1:g.7715G>A , LRG_256:g.7715G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.234G>A	ENSP00000488104.2:p.Ser78=
ENST00000533357.5:c.234G>A MANE Select	ENSP00000432943.1:p.Ser78=
ENST00000672287.2:c.-355G>A	ENSP00000499818.2:n.-355G>A
ENST00000672602.2:c.234G>A	ENSP00000500814.2:p.Ser78=
ENST00000674861.1:n.297G>A
ENST00000463290.5:c.234G>A	ENSP00000431538.1:p.Ser78=
ENST00000491222.5:c.-355G>A	ENSP00000431441.1:n.-355G>A
ENST00000533357.4:c.234G>A	ENSP00000432943.1:p.Ser78=
NM_000530.6:c.234G>A , LRG_256t1:c.234G>A	NP_000521.2:p.Ser78=
NM_000530.7:c.234G>A	NP_000521.2:p.Ser78=
NM_001315491.1:c.234G>A	NP_001302420.1:p.Ser78=
XM_017001321.2:c.264G>A	XP_016856810.1:p.Ser88=
NM_000530.8:c.234G>A MANE Select	NP_000521.2:p.Ser78=
NM_001315491.2:c.234G>A	NP_001302420.1:p.Ser78=