Canonical Allele Identifier: CA421404292

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275907G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306117G>T , CM000663.2:g.161306117G>T	GRCh38
NC_000001.10:g.161275907G>T , CM000663.1:g.161275907G>T	GRCh37
NC_000001.9:g.159542531G>T	NCBI36
NG_008055.1:g.8856C>A , LRG_256:g.8856C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.555C>A	ENSP00000488104.2:p.Arg185=
ENST00000533357.5:c.636C>A MANE Select	ENSP00000432943.1:p.Arg212=
ENST00000672287.2:c.48C>A	ENSP00000499818.2:p.Arg16=
ENST00000672602.2:c.636C>A	ENSP00000500814.2:p.Arg212=
ENST00000674861.1:n.699C>A
ENST00000463290.5:c.636C>A	ENSP00000431538.1:p.Arg212=
ENST00000476410.1:n.96C>A
ENST00000488271.1:n.74C>A
ENST00000491222.5:c.48C>A	ENSP00000431441.1:p.Arg16=
ENST00000526189.2:c.299C>A
ENST00000533357.4:c.636C>A	ENSP00000432943.1:p.Arg212=
NM_000530.6:c.636C>A , LRG_256t1:c.636C>A	NP_000521.2:p.Arg212=
NM_000530.7:c.636C>A	NP_000521.2:p.Arg212=
NM_001315491.1:c.636C>A	NP_001302420.1:p.Arg212=
XM_017001321.2:c.666C>A	XP_016856810.1:p.Arg222=
NM_000530.8:c.636C>A MANE Select	NP_000521.2:p.Arg212=
NM_001315491.2:c.636C>A	NP_001302420.1:p.Arg212=