Canonical Allele Identifier: CA31667697

Gene: MPZ

Linked Data

• dbSNP Id: rs924360835
• gnomAD v4: 1-161305876-C-T
• MyVariant Identifiers: chr1:g.161275666C>T (hg19) ; chr1:g.161305876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161305876C>T , CM000663.2:g.161305876C>T	GRCh38
NC_000001.10:g.161275666C>T , CM000663.1:g.161275666C>T	GRCh37
NC_000001.9:g.159542290C>T	NCBI36
NG_008055.1:g.9097G>A , LRG_256:g.9097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.666G>A	ENSP00000488104.2:p.Ter222=
ENST00000533357.5:c.747G>A MANE Select	ENSP00000432943.1:p.Ter249=
ENST00000672287.2:c.159G>A	ENSP00000499818.2:p.Ter53=
ENST00000672602.2:c.747G>A	ENSP00000500814.2:p.Ter249=
ENST00000674861.1:n.810G>A
ENST00000463290.5:c.747G>A	ENSP00000431538.1:p.Ter249=
ENST00000476410.1:n.337G>A
ENST00000488271.1:n.185G>A
ENST00000491222.5:c.159G>A	ENSP00000431441.1:p.Ter53=
ENST00000526189.2:c.410G>A
ENST00000533357.4:c.747G>A	ENSP00000432943.1:p.Ter249=
NM_000530.6:c.747G>A , LRG_256t1:c.747G>A	NP_000521.2:p.Ter249=
NM_000530.7:c.747G>A	NP_000521.2:p.Ter249=
NM_001315491.1:c.747G>A	NP_001302420.1:p.Ter249=
XM_017001321.2:c.675+232G>A	XP_016856810.1:n.675+232G>A
NM_000530.8:c.747G>A MANE Select	NP_000521.2:p.Ter249=
NM_001315491.2:c.747G>A	NP_001302420.1:p.Ter249=