Canonical Allele Identifier: CA421404078

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275734T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305944T>G , CM000663.2:g.161305944T>G	GRCh38
NC_000001.10:g.161275734T>G , CM000663.1:g.161275734T>G	GRCh37
NC_000001.9:g.159542358T>G	NCBI36
NG_008055.1:g.9029A>C , LRG_256:g.9029A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.598A>C	ENSP00000488104.2:p.Arg200=
ENST00000533357.5:c.679A>C MANE Select	ENSP00000432943.1:p.Arg227=
ENST00000672287.2:c.91A>C	ENSP00000499818.2:p.Arg31=
ENST00000672602.2:c.679A>C	ENSP00000500814.2:p.Arg227=
ENST00000674861.1:n.742A>C
ENST00000463290.5:c.679A>C	ENSP00000431538.1:p.Arg227=
ENST00000476410.1:n.269A>C
ENST00000488271.1:n.117A>C
ENST00000491222.5:c.91A>C	ENSP00000431441.1:p.Arg31=
ENST00000526189.2:c.342A>C
ENST00000533357.4:c.679A>C	ENSP00000432943.1:p.Arg227=
NM_000530.6:c.679A>C , LRG_256t1:c.679A>C	NP_000521.2:p.Arg227=
NM_000530.7:c.679A>C	NP_000521.2:p.Arg227=
NM_001315491.1:c.679A>C	NP_001302420.1:p.Arg227=
XM_017001321.2:c.675+164A>C	XP_016856810.1:n.675+164A>C
NM_000530.8:c.679A>C MANE Select	NP_000521.2:p.Arg227=
NM_001315491.2:c.679A>C	NP_001302420.1:p.Arg227=