Canonical Allele Identifier: CA343350361

Gene: MPZ

Linked Data

• ClinVar Variation Id: 2914677
• ClinVar RCV Id: RCV003741015
• dbSNP Id: rs773724920
• gnomAD v2: 1-161277067-C-G
• gnomAD v4: 1-161307277-C-G
• MyVariant Identifiers: chr1:g.161277067C>G (hg19) ; chr1:g.161307277C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307277C>G , CM000663.2:g.161307277C>G	GRCh38
NC_000001.10:g.161277067C>G , CM000663.1:g.161277067C>G	GRCh37
NC_000001.9:g.159543691C>G	NCBI36
NG_008055.1:g.7696G>C , LRG_256:g.7696G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.215G>C	ENSP00000488104.2:p.Gly72Ala
ENST00000533357.5:c.215G>C MANE Select	ENSP00000432943.1:p.Gly72Ala
ENST00000672287.2:c.-374G>C	ENSP00000499818.2:n.-374G>C
ENST00000672602.2:c.215G>C	ENSP00000500814.2:p.Gly72Ala
ENST00000674861.1:n.278G>C
ENST00000463290.5:c.215G>C	ENSP00000431538.1:p.Gly72Ala
ENST00000491222.5:c.-374G>C	ENSP00000431441.1:n.-374G>C
ENST00000533357.4:c.215G>C	ENSP00000432943.1:p.Gly72Ala
NM_000530.6:c.215G>C , LRG_256t1:c.215G>C	NP_000521.2:p.Gly72Ala
NM_000530.7:c.215G>C	NP_000521.2:p.Gly72Ala
NM_001315491.1:c.215G>C	NP_001302420.1:p.Gly72Ala
XM_017001321.2:c.245G>C	XP_016856810.1:p.Gly82Ala
NM_000530.8:c.215G>C MANE Select	NP_000521.2:p.Gly72Ala
NM_001315491.2:c.215G>C	NP_001302420.1:p.Gly72Ala