Canonical Allele Identifier: CA343351737

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161277212G>T (hg19) ; chr1:g.161307422G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307422G>T , CM000663.2:g.161307422G>T	GRCh38
NC_000001.10:g.161277212G>T , CM000663.1:g.161277212G>T	GRCh37
NC_000001.9:g.159543836G>T	NCBI36
NG_008055.1:g.7551C>A , LRG_256:g.7551C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.70C>A	ENSP00000488104.2:p.Leu24Met
ENST00000533357.5:c.70C>A MANE Select	ENSP00000432943.1:p.Leu24Met
ENST00000672287.2:c.-519C>A	ENSP00000499818.2:n.-519C>A
ENST00000672602.2:c.70C>A	ENSP00000500814.2:p.Leu24Met
ENST00000674861.1:n.133C>A
ENST00000463290.5:c.70C>A	ENSP00000431538.1:p.Leu24Met
ENST00000491222.5:c.-519C>A	ENSP00000431441.1:n.-519C>A
ENST00000533357.4:c.70C>A	ENSP00000432943.1:p.Leu24Met
NM_000530.6:c.70C>A , LRG_256t1:c.70C>A	NP_000521.2:p.Leu24Met
NM_000530.7:c.70C>A	NP_000521.2:p.Leu24Met
NM_001315491.1:c.70C>A	NP_001302420.1:p.Leu24Met
XM_017001321.2:c.100C>A	XP_016856810.1:p.Leu34Met
NM_000530.8:c.70C>A MANE Select	NP_000521.2:p.Leu24Met
NM_001315491.2:c.70C>A	NP_001302420.1:p.Leu24Met