Canonical Allele Identifier: CA1210231

Gene: MPZ

Linked Data

• ClinVar Variation Id: 637341
• ClinVar RCV Id: RCV000789462 ; RCV001856238
• dbSNP Id: rs771372609
• ExAC: 1:161277184 T / A
• gnomAD v2: 1-161277184-T-A
• gnomAD v4: 1-161307394-T-A
• MyVariant Identifiers: chr1:g.161277184T>A (hg19) ; chr1:g.161307394T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161307394T>A , CM000663.2:g.161307394T>A	GRCh38
NC_000001.10:g.161277184T>A , CM000663.1:g.161277184T>A	GRCh37
NC_000001.9:g.159543808T>A	NCBI36
NG_008055.1:g.7579A>T , LRG_256:g.7579A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526189.3:c.98A>T	ENSP00000488104.2:p.Tyr33Phe
ENST00000533357.5:c.98A>T MANE Select	ENSP00000432943.1:p.Tyr33Phe
ENST00000672287.2:c.-491A>T	ENSP00000499818.2:n.-491A>T
ENST00000672602.2:c.98A>T	ENSP00000500814.2:p.Tyr33Phe
ENST00000674861.1:n.161A>T
ENST00000463290.5:c.98A>T	ENSP00000431538.1:p.Tyr33Phe
ENST00000491222.5:c.-491A>T	ENSP00000431441.1:n.-491A>T
ENST00000533357.4:c.98A>T	ENSP00000432943.1:p.Tyr33Phe
NM_000530.6:c.98A>T , LRG_256t1:c.98A>T	NP_000521.2:p.Tyr33Phe
NM_000530.7:c.98A>T	NP_000521.2:p.Tyr33Phe
NM_001315491.1:c.98A>T	NP_001302420.1:p.Tyr33Phe
XM_017001321.2:c.128A>T	XP_016856810.1:p.Tyr43Phe
NM_000530.8:c.98A>T MANE Select	NP_000521.2:p.Tyr33Phe
NM_001315491.2:c.98A>T	NP_001302420.1:p.Tyr33Phe