Canonical Allele Identifier: CA527135373

Gene: MPZ

Linked Data

• dbSNP Id: rs1475271745
• gnomAD v2: 1-161277413-C-CCTA
• gnomAD v3: 1-161307623-C-CCTA
• gnomAD v4: 1-161307623-C-CCTA
• MyVariant Identifiers: chr1:g.161277413_161277414insCTA (hg19) ; chr1:g.161307623_161307624insCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307623_161307624insCTA , CM000663.2:g.161307623_161307624insCTA	GRCh38
NC_000001.10:g.161277413_161277414insCTA , CM000663.1:g.161277413_161277414insCTA	GRCh37
NC_000001.9:g.159544037_159544038insCTA	NCBI36
NG_008055.1:g.7349_7350insTAG , LRG_256:g.7349_7350insTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.68-200_68-199insTAG	ENSP00000488104.2:n.68-200_68-199insTAG
ENST00000533357.5:c.68-200_68-199insTAG MANE Select	ENSP00000432943.1:n.68-200_68-199insTAG
ENST00000672602.2:c.68-200_68-199insTAG	ENSP00000500814.2:n.68-200_68-199insTAG
ENST00000674861.1:n.131-200_131-199insTAG
ENST00000463290.5:c.68-200_68-199insTAG	ENSP00000431538.1:n.68-200_68-199insTAG
ENST00000533357.4:c.68-200_68-199insTAG	ENSP00000432943.1:n.68-200_68-199insTAG
NM_000530.6:c.68-200_68-199insTAG , LRG_256t1:c.68-200_68-199insTAG	NP_000521.2:n.68-200_68-199insTAG
NM_000530.7:c.68-200_68-199insTAG	NP_000521.2:n.68-200_68-199insTAG
NM_001315491.1:c.68-200_68-199insTAG	NP_001302420.1:n.68-200_68-199insTAG
XM_017001321.2:c.98-200_98-199insTAG	XP_016856810.1:n.98-200_98-199insTAG
NM_000530.8:c.68-200_68-199insTAG MANE Select	NP_000521.2:n.68-200_68-199insTAG
NM_001315491.2:c.68-200_68-199insTAG	NP_001302420.1:n.68-200_68-199insTAG