Canonical Allele Identifier: CA343344816

Gene: MPZ

Linked Data

• COSMIC: COSM6272753 ; COSM6272754
• MyVariant Identifiers: chr1:g.161275930G>T (hg19) ; chr1:g.161306140G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306140G>T , CM000663.2:g.161306140G>T	GRCh38
NC_000001.10:g.161275930G>T , CM000663.1:g.161275930G>T	GRCh37
NC_000001.9:g.159542554G>T	NCBI36
NG_008055.1:g.8833C>A , LRG_256:g.8833C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.532C>A	ENSP00000488104.2:p.Pro178Thr
ENST00000533357.5:c.613C>A MANE Select	ENSP00000432943.1:p.Pro205Thr
ENST00000672287.2:c.25C>A	ENSP00000499818.2:p.Pro9Thr
ENST00000672602.2:c.613C>A	ENSP00000500814.2:p.Pro205Thr
ENST00000674861.1:n.676C>A
ENST00000463290.5:c.613C>A	ENSP00000431538.1:p.Pro205Thr
ENST00000476410.1:n.73C>A
ENST00000488271.1:n.51C>A
ENST00000491222.5:c.25C>A	ENSP00000431441.1:p.Pro9Thr
ENST00000526189.2:c.276C>A
ENST00000533357.4:c.613C>A	ENSP00000432943.1:p.Pro205Thr
NM_000530.6:c.613C>A , LRG_256t1:c.613C>A	NP_000521.2:p.Pro205Thr
NM_000530.7:c.613C>A	NP_000521.2:p.Pro205Thr
NM_001315491.1:c.613C>A	NP_001302420.1:p.Pro205Thr
XM_017001321.2:c.643C>A	XP_016856810.1:p.Pro215Thr
NM_000530.8:c.613C>A MANE Select	NP_000521.2:p.Pro205Thr
NM_001315491.2:c.613C>A	NP_001302420.1:p.Pro205Thr