Canonical Allele Identifier: CA339872505

Gene: ZMPSTE24

Linked Data

• MyVariant Identifiers: chr1:g.40758271C>T (hg19) ; chr1:g.40292599C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40292599C>T , CM000663.2:g.40292599C>T	GRCh38
NC_000001.10:g.40758271C>T , CM000663.1:g.40758271C>T	GRCh37
NC_000001.9:g.40530858C>T	NCBI36
NG_008695.1:g.39539C>T , LRG_212:g.39539C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372759.4:c.1358C>T MANE Select	ENSP00000361845.3:p.Ser453Leu
ENST00000674703.1:c.*1199C>T	ENSP00000501674.1:n.*1199C>T
ENST00000675754.1:c.*1100C>T	ENSP00000502555.1:n.*1100C>T
ENST00000675937.1:c.*603C>T	ENSP00000502683.1:n.*603C>T
ENST00000372759.3:c.1358C>T	ENSP00000361845.3:p.Ser453Leu
ENST00000474142.1:n.508C>T
NM_005857.4:c.1358C>T	NP_005848.2:p.Ser453Leu
XM_011540486.1:c.1109C>T	XP_011538788.1:p.Ser370Leu
XR_001736906.2:n.1745C>T
NM_005857.5:c.1358C>T MANE Select	NP_005848.2:p.Ser453Leu