Canonical Allele Identifier: CA421405059

Gene: MPZ

Linked Data

• dbSNP Id: rs1670258655
• gnomAD v4: 1-161306726-G-A
• MyVariant Identifiers: chr1:g.161276516G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161306726G>A , CM000663.2:g.161306726G>A	GRCh38
NC_000001.10:g.161276516G>A , CM000663.1:g.161276516G>A	GRCh37
NC_000001.9:g.159543140G>A	NCBI36
NG_008055.1:g.8247C>T , LRG_256:g.8247C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000526189.3:c.367+63C>T	ENSP00000488104.2:n.367+63C>T
ENST00000533357.5:c.430C>T MANE Select	ENSP00000432943.1:p.Leu144=
ENST00000672287.2:c.-159C>T	ENSP00000499818.2:n.-159C>T
ENST00000672602.2:c.430C>T	ENSP00000500814.2:p.Leu144=
ENST00000674861.1:n.493C>T
ENST00000463290.5:c.430C>T	ENSP00000431538.1:p.Leu144=
ENST00000491222.5:c.-159C>T	ENSP00000431441.1:n.-159C>T
ENST00000526189.2:c.111+63C>T
ENST00000533357.4:c.430C>T	ENSP00000432943.1:p.Leu144=
NM_000530.6:c.430C>T , LRG_256t1:c.430C>T	NP_000521.2:p.Leu144=
NM_000530.7:c.430C>T	NP_000521.2:p.Leu144=
NM_001315491.1:c.430C>T	NP_001302420.1:p.Leu144=
XM_017001321.2:c.460C>T	XP_016856810.1:p.Leu154=
NM_000530.8:c.430C>T MANE Select	NP_000521.2:p.Leu144=
NM_001315491.2:c.430C>T	NP_001302420.1:p.Leu144=