Canonical Allele Identifier: CA343344659

Gene: MPZ

Linked Data

• gnomAD v4: 1-161306119-G-C
• MyVariant Identifiers: chr1:g.161275909G>C (hg19) ; chr1:g.161306119G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306119G>C , CM000663.2:g.161306119G>C	GRCh38
NC_000001.10:g.161275909G>C , CM000663.1:g.161275909G>C	GRCh37
NC_000001.9:g.159542533G>C	NCBI36
NG_008055.1:g.8854C>G , LRG_256:g.8854C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.553C>G	ENSP00000488104.2:p.Arg185Gly
ENST00000533357.5:c.634C>G MANE Select	ENSP00000432943.1:p.Arg212Gly
ENST00000672287.2:c.46C>G	ENSP00000499818.2:p.Arg16Gly
ENST00000672602.2:c.634C>G	ENSP00000500814.2:p.Arg212Gly
ENST00000674861.1:n.697C>G
ENST00000463290.5:c.634C>G	ENSP00000431538.1:p.Arg212Gly
ENST00000476410.1:n.94C>G
ENST00000488271.1:n.72C>G
ENST00000491222.5:c.46C>G	ENSP00000431441.1:p.Arg16Gly
ENST00000526189.2:c.297C>G
ENST00000533357.4:c.634C>G	ENSP00000432943.1:p.Arg212Gly
NM_000530.6:c.634C>G , LRG_256t1:c.634C>G	NP_000521.2:p.Arg212Gly
NM_000530.7:c.634C>G	NP_000521.2:p.Arg212Gly
NM_001315491.1:c.634C>G	NP_001302420.1:p.Arg212Gly
XM_017001321.2:c.664C>G	XP_016856810.1:p.Arg222Gly
NM_000530.8:c.634C>G MANE Select	NP_000521.2:p.Arg212Gly
NM_001315491.2:c.634C>G	NP_001302420.1:p.Arg212Gly