Canonical Allele Identifier: CA417330145
Gene: ZMPSTE24 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.40758272A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40292600A>C , CM000663.2:g.40292600A>C GRCh38
NC_000001.10:g.40758272A>C , CM000663.1:g.40758272A>C GRCh37
NC_000001.9:g.40530859A>C NCBI36
NG_008695.1:g.39540A>C , LRG_212:g.39540A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372759.4:c.1359A>C MANE Select ENSP00000361845.3:p.Ser453=
ENST00000674703.1:c.*1200A>C ENSP00000501674.1:n.*1200A>C
ENST00000675754.1:c.*1101A>C ENSP00000502555.1:n.*1101A>C
ENST00000675937.1:c.*604A>C ENSP00000502683.1:n.*604A>C
ENST00000372759.3:c.1359A>C ENSP00000361845.3:p.Ser453=
ENST00000474142.1:n.509A>C
NM_005857.4:c.1359A>C NP_005848.2:p.Ser453=
XM_011540486.1:c.1110A>C XP_011538788.1:p.Ser370=
XR_001736906.2:n.1746A>C
NM_005857.5:c.1359A>C MANE Select NP_005848.2:p.Ser453=