Canonical Allele Identifier: CA339872496

Gene: ZMPSTE24

Linked Data

• MyVariant Identifiers: chr1:g.40758267T>G (hg19) ; chr1:g.40292595T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40292595T>G , CM000663.2:g.40292595T>G	GRCh38
NC_000001.10:g.40758267T>G , CM000663.1:g.40758267T>G	GRCh37
NC_000001.9:g.40530854T>G	NCBI36
NG_008695.1:g.39535T>G , LRG_212:g.39535T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372759.4:c.1354T>G MANE Select	ENSP00000361845.3:p.Phe452Val
ENST00000674703.1:c.*1195T>G	ENSP00000501674.1:n.*1195T>G
ENST00000675754.1:c.*1096T>G	ENSP00000502555.1:n.*1096T>G
ENST00000675937.1:c.*599T>G	ENSP00000502683.1:n.*599T>G
ENST00000372759.3:c.1354T>G	ENSP00000361845.3:p.Phe452Val
ENST00000474142.1:n.504T>G
NM_005857.4:c.1354T>G	NP_005848.2:p.Phe452Val
XM_011540486.1:c.1105T>G	XP_011538788.1:p.Phe369Val
XR_001736906.2:n.1741T>G
NM_005857.5:c.1354T>G MANE Select	NP_005848.2:p.Phe452Val