Canonical Allele Identifier: CA343351428

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161277165A>C (hg19) ; chr1:g.161307375A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307375A>C , CM000663.2:g.161307375A>C	GRCh38
NC_000001.10:g.161277165A>C , CM000663.1:g.161277165A>C	GRCh37
NC_000001.9:g.159543789A>C	NCBI36
NG_008055.1:g.7598T>G , LRG_256:g.7598T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.117T>G	ENSP00000488104.2:p.His39Gln
ENST00000533357.5:c.117T>G MANE Select	ENSP00000432943.1:p.His39Gln
ENST00000672287.2:c.-472T>G	ENSP00000499818.2:n.-472T>G
ENST00000672602.2:c.117T>G	ENSP00000500814.2:p.His39Gln
ENST00000674861.1:n.180T>G
ENST00000463290.5:c.117T>G	ENSP00000431538.1:p.His39Gln
ENST00000491222.5:c.-472T>G	ENSP00000431441.1:n.-472T>G
ENST00000533357.4:c.117T>G	ENSP00000432943.1:p.His39Gln
NM_000530.6:c.117T>G , LRG_256t1:c.117T>G	NP_000521.2:p.His39Gln
NM_000530.7:c.117T>G	NP_000521.2:p.His39Gln
NM_001315491.1:c.117T>G	NP_001302420.1:p.His39Gln
XM_017001321.2:c.147T>G	XP_016856810.1:p.His49Gln
NM_000530.8:c.117T>G MANE Select	NP_000521.2:p.His39Gln
NM_001315491.2:c.117T>G	NP_001302420.1:p.His39Gln