Canonical Allele Identifier: CA343348371

Gene: MPZ

Linked Data

• COSMIC: COSM898549 ; COSM4870063
• MyVariant Identifiers: chr1:g.161276519T>C (hg19) ; chr1:g.161306729T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306729T>C , CM000663.2:g.161306729T>C	GRCh38
NC_000001.10:g.161276519T>C , CM000663.1:g.161276519T>C	GRCh37
NC_000001.9:g.159543143T>C	NCBI36
NG_008055.1:g.8244A>G , LRG_256:g.8244A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.367+60A>G	ENSP00000488104.2:n.367+60A>G
ENST00000533357.5:c.427A>G MANE Select	ENSP00000432943.1:p.Thr143Ala
ENST00000672287.2:c.-162A>G	ENSP00000499818.2:n.-162A>G
ENST00000672602.2:c.427A>G	ENSP00000500814.2:p.Thr143Ala
ENST00000674861.1:n.490A>G
ENST00000463290.5:c.427A>G	ENSP00000431538.1:p.Thr143Ala
ENST00000491222.5:c.-162A>G	ENSP00000431441.1:n.-162A>G
ENST00000526189.2:c.111+60A>G
ENST00000533357.4:c.427A>G	ENSP00000432943.1:p.Thr143Ala
NM_000530.6:c.427A>G , LRG_256t1:c.427A>G	NP_000521.2:p.Thr143Ala
NM_000530.7:c.427A>G	NP_000521.2:p.Thr143Ala
NM_001315491.1:c.427A>G	NP_001302420.1:p.Thr143Ala
XM_017001321.2:c.457A>G	XP_016856810.1:p.Thr153Ala
NM_000530.8:c.427A>G MANE Select	NP_000521.2:p.Thr143Ala
NM_001315491.2:c.427A>G	NP_001302420.1:p.Thr143Ala