Canonical Allele Identifier: CA421404294

Gene: MPZ

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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