Canonical Allele Identifier: CA417330142

Gene: ZMPSTE24

Linked Data

• gnomAD v4: 1-40292597-C-T
• MyVariant Identifiers: chr1:g.40758269C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40292597C>T , CM000663.2:g.40292597C>T	GRCh38
NC_000001.10:g.40758269C>T , CM000663.1:g.40758269C>T	GRCh37
NC_000001.9:g.40530856C>T	NCBI36
NG_008695.1:g.39537C>T , LRG_212:g.39537C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372759.4:c.1356C>T MANE Select	ENSP00000361845.3:p.Phe452=
ENST00000674703.1:c.*1197C>T	ENSP00000501674.1:n.*1197C>T
ENST00000675754.1:c.*1098C>T	ENSP00000502555.1:n.*1098C>T
ENST00000675937.1:c.*601C>T	ENSP00000502683.1:n.*601C>T
ENST00000372759.3:c.1356C>T	ENSP00000361845.3:p.Phe452=
ENST00000474142.1:n.506C>T
NM_005857.4:c.1356C>T	NP_005848.2:p.Phe452=
XM_011540486.1:c.1107C>T	XP_011538788.1:p.Phe369=
XR_001736906.2:n.1743C>T
NM_005857.5:c.1356C>T MANE Select	NP_005848.2:p.Phe452=