Canonical Allele Identifier: CA343344845

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275934G>T (hg19) ; chr1:g.161306144G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306144G>T , CM000663.2:g.161306144G>T	GRCh38
NC_000001.10:g.161275934G>T , CM000663.1:g.161275934G>T	GRCh37
NC_000001.9:g.159542558G>T	NCBI36
NG_008055.1:g.8829C>A , LRG_256:g.8829C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.528C>A	ENSP00000488104.2:p.His176Gln
ENST00000533357.5:c.609C>A MANE Select	ENSP00000432943.1:p.His203Gln
ENST00000672287.2:c.21C>A	ENSP00000499818.2:p.His7Gln
ENST00000672602.2:c.609C>A	ENSP00000500814.2:p.His203Gln
ENST00000674861.1:n.672C>A
ENST00000463290.5:c.609C>A	ENSP00000431538.1:p.His203Gln
ENST00000476410.1:n.69C>A
ENST00000488271.1:n.47C>A
ENST00000491222.5:c.21C>A	ENSP00000431441.1:p.His7Gln
ENST00000526189.2:c.272C>A
ENST00000533357.4:c.609C>A	ENSP00000432943.1:p.His203Gln
NM_000530.6:c.609C>A , LRG_256t1:c.609C>A	NP_000521.2:p.His203Gln
NM_000530.7:c.609C>A	NP_000521.2:p.His203Gln
NM_001315491.1:c.609C>A	NP_001302420.1:p.His203Gln
XM_017001321.2:c.639C>A	XP_016856810.1:p.His213Gln
NM_000530.8:c.609C>A MANE Select	NP_000521.2:p.His203Gln
NM_001315491.2:c.609C>A	NP_001302420.1:p.His203Gln