Canonical Allele Identifier: CA343353207

Gene: MPZ

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161309886G>C , CM000663.2:g.161309886G>C	GRCh38
NC_000001.10:g.161279676G>C , CM000663.1:g.161279676G>C	GRCh37
NC_000001.9:g.159546300G>C	NCBI36
NG_008055.1:g.5087C>G , LRG_256:g.5087C>G
NG_012767.1:g.511G>C , LRG_317:g.511G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000530.8:c.20C>G MANE Select	NP_000521.2:p.Ser7Ter
ENST00000533357.5:c.20C>G MANE Select	ENSP00000432943.1:p.Ser7Ter
NM_000530.6:c.20C>G , LRG_256t1:c.20C>G	NP_000521.2:p.Ser7Ter
NM_000530.7:c.20C>G	NP_000521.2:p.Ser7Ter
NM_001315491.1:c.20C>G	NP_001302420.1:p.Ser7Ter
NM_001315491.2:c.20C>G	NP_001302420.1:p.Ser7Ter
ENST00000463290.5:c.20C>G	ENSP00000431538.1:p.Ser7Ter
ENST00000526189.3:c.20C>G	ENSP00000488104.2:p.Ser7Ter
ENST00000533357.4:c.20C>G	ENSP00000432943.1:p.Ser7Ter
ENST00000672602.2:c.20C>G	ENSP00000500814.2:p.Ser7Ter
ENST00000674861.1:n.83C>G
XM_017001321.2:c.50C>G	XP_016856810.1:p.Ser17Ter