Canonical Allele Identifier: CA343344867

Gene: MPZ

Linked Data

• MyVariant Identifiers: chr1:g.161275937C>A (hg19) ; chr1:g.161306147C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306147C>A , CM000663.2:g.161306147C>A	GRCh38
NC_000001.10:g.161275937C>A , CM000663.1:g.161275937C>A	GRCh37
NC_000001.9:g.159542561C>A	NCBI36
NG_008055.1:g.8826G>T , LRG_256:g.8826G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.525G>T	ENSP00000488104.2:p.Leu175Phe
ENST00000533357.5:c.606G>T MANE Select	ENSP00000432943.1:p.Leu202Phe
ENST00000672287.2:c.18G>T	ENSP00000499818.2:p.Leu6Phe
ENST00000672602.2:c.606G>T	ENSP00000500814.2:p.Leu202Phe
ENST00000674861.1:n.669G>T
ENST00000463290.5:c.606G>T	ENSP00000431538.1:p.Leu202Phe
ENST00000476410.1:n.66G>T
ENST00000488271.1:n.44G>T
ENST00000491222.5:c.18G>T	ENSP00000431441.1:p.Leu6Phe
ENST00000526189.2:c.269G>T
ENST00000533357.4:c.606G>T	ENSP00000432943.1:p.Leu202Phe
NM_000530.6:c.606G>T , LRG_256t1:c.606G>T	NP_000521.2:p.Leu202Phe
NM_000530.7:c.606G>T	NP_000521.2:p.Leu202Phe
NM_001315491.1:c.606G>T	NP_001302420.1:p.Leu202Phe
XM_017001321.2:c.636G>T	XP_016856810.1:p.Leu212Phe
NM_000530.8:c.606G>T MANE Select	NP_000521.2:p.Leu202Phe
NM_001315491.2:c.606G>T	NP_001302420.1:p.Leu202Phe