Canonical Allele Identifier: CA232735

Gene: ZMPSTE24

Linked Data

• ClinVar Variation Id: 140519
• ClinVar RCV Id: RCV000128733
• dbSNP Id: rs281875377
• MyVariant Identifiers: chr1:g.40758269C>G (hg19) ; chr1:g.40292597C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000372759.4:c.1356C>G MANE Select	ENSP00000361845.3:p.Phe452Leu
ENST00000674703.1:c.*1197C>G	ENSP00000501674.1:n.*1197C>G
ENST00000675754.1:c.*1098C>G	ENSP00000502555.1:n.*1098C>G
ENST00000675937.1:c.*601C>G	ENSP00000502683.1:n.*601C>G
ENST00000372759.3:c.1356C>G	ENSP00000361845.3:p.Phe452Leu
ENST00000474142.1:n.506C>G
NM_005857.4:c.1356C>G	NP_005848.2:p.Phe452Leu
XM_011540486.1:c.1107C>G	XP_011538788.1:p.Phe369Leu
XR_001736906.2:n.1743C>G
NM_005857.5:c.1356C>G MANE Select	NP_005848.2:p.Phe452Leu