Canonical Allele Identifier: CA343343816

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275679T>C (hg19) ; chr1:g.161305889T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305889T>C , CM000663.2:g.161305889T>C	GRCh38
NC_000001.10:g.161275679T>C , CM000663.1:g.161275679T>C	GRCh37
NC_000001.9:g.159542303T>C	NCBI36
NG_008055.1:g.9084A>G , LRG_256:g.9084A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.653A>G	ENSP00000488104.2:p.Lys218Arg
ENST00000533357.5:c.734A>G MANE Select	ENSP00000432943.1:p.Lys245Arg
ENST00000672287.2:c.146A>G	ENSP00000499818.2:p.Lys49Arg
ENST00000672602.2:c.734A>G	ENSP00000500814.2:p.Lys245Arg
ENST00000674861.1:n.797A>G
ENST00000463290.5:c.734A>G	ENSP00000431538.1:p.Lys245Arg
ENST00000476410.1:n.324A>G
ENST00000488271.1:n.172A>G
ENST00000491222.5:c.146A>G	ENSP00000431441.1:p.Lys49Arg
ENST00000526189.2:c.397A>G
ENST00000533357.4:c.734A>G	ENSP00000432943.1:p.Lys245Arg
NM_000530.6:c.734A>G , LRG_256t1:c.734A>G	NP_000521.2:p.Lys245Arg
NM_000530.7:c.734A>G	NP_000521.2:p.Lys245Arg
NM_001315491.1:c.734A>G	NP_001302420.1:p.Lys245Arg
XM_017001321.2:c.675+219A>G	XP_016856810.1:n.675+219A>G
NM_000530.8:c.734A>G MANE Select	NP_000521.2:p.Lys245Arg
NM_001315491.2:c.734A>G	NP_001302420.1:p.Lys245Arg