Canonical Allele Identifier: CA343343985

Gene: MPZ

Linked Data

• gnomAD v4: 1-161305910-T-C
• MyVariant Identifiers: chr1:g.161275700T>C (hg19) ; chr1:g.161305910T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305910T>C , CM000663.2:g.161305910T>C	GRCh38
NC_000001.10:g.161275700T>C , CM000663.1:g.161275700T>C	GRCh37
NC_000001.9:g.159542324T>C	NCBI36
NG_008055.1:g.9063A>G , LRG_256:g.9063A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.632A>G	ENSP00000488104.2:p.Lys211Arg
ENST00000533357.5:c.713A>G MANE Select	ENSP00000432943.1:p.Lys238Arg
ENST00000672287.2:c.125A>G	ENSP00000499818.2:p.Lys42Arg
ENST00000672602.2:c.713A>G	ENSP00000500814.2:p.Lys238Arg
ENST00000674861.1:n.776A>G
ENST00000463290.5:c.713A>G	ENSP00000431538.1:p.Lys238Arg
ENST00000476410.1:n.303A>G
ENST00000488271.1:n.151A>G
ENST00000491222.5:c.125A>G	ENSP00000431441.1:p.Lys42Arg
ENST00000526189.2:c.376A>G
ENST00000533357.4:c.713A>G	ENSP00000432943.1:p.Lys238Arg
NM_000530.6:c.713A>G , LRG_256t1:c.713A>G	NP_000521.2:p.Lys238Arg
NM_000530.7:c.713A>G	NP_000521.2:p.Lys238Arg
NM_001315491.1:c.713A>G	NP_001302420.1:p.Lys238Arg
XM_017001321.2:c.675+198A>G	XP_016856810.1:n.675+198A>G
NM_000530.8:c.713A>G MANE Select	NP_000521.2:p.Lys238Arg
NM_001315491.2:c.713A>G	NP_001302420.1:p.Lys238Arg