Canonical Allele Identifier: CA1210224

Gene: MPZ

Linked Data

• dbSNP Id: rs757944234
• ExAC: 1:161277135 G / C
• gnomAD v2: 1-161277135-G-C
• gnomAD v3: 1-161307345-G-C
• gnomAD v4: 1-161307345-G-C
• COSMIC: COSM6056335 ; COSM6056336
• MyVariant Identifiers: chr1:g.161277135G>C (hg19) ; chr1:g.161307345G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307345G>C , CM000663.2:g.161307345G>C	GRCh38
NC_000001.10:g.161277135G>C , CM000663.1:g.161277135G>C	GRCh37
NC_000001.9:g.159543759G>C	NCBI36
NG_008055.1:g.7628C>G , LRG_256:g.7628C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.147C>G	ENSP00000488104.2:p.His49Gln
ENST00000533357.5:c.147C>G MANE Select	ENSP00000432943.1:p.His49Gln
ENST00000672287.2:c.-442C>G	ENSP00000499818.2:n.-442C>G
ENST00000672602.2:c.147C>G	ENSP00000500814.2:p.His49Gln
ENST00000674861.1:n.210C>G
ENST00000463290.5:c.147C>G	ENSP00000431538.1:p.His49Gln
ENST00000491222.5:c.-442C>G	ENSP00000431441.1:n.-442C>G
ENST00000533357.4:c.147C>G	ENSP00000432943.1:p.His49Gln
NM_000530.6:c.147C>G , LRG_256t1:c.147C>G	NP_000521.2:p.His49Gln
NM_000530.7:c.147C>G	NP_000521.2:p.His49Gln
NM_001315491.1:c.147C>G	NP_001302420.1:p.His49Gln
XM_017001321.2:c.177C>G	XP_016856810.1:p.His59Gln
NM_000530.8:c.147C>G MANE Select	NP_000521.2:p.His49Gln
NM_001315491.2:c.147C>G	NP_001302420.1:p.His49Gln