Canonical Allele Identifier: CA791218

Gene: ZMPSTE24

Linked Data

• dbSNP Id: rs771084583
• ExAC: 1:40758273 A / G
• gnomAD v2: 1-40758273-A-G
• gnomAD v4: 1-40292601-A-G
• MyVariant Identifiers: chr1:g.40758273A>G (hg19) ; chr1:g.40292601A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40292601A>G , CM000663.2:g.40292601A>G	GRCh38
NC_000001.10:g.40758273A>G , CM000663.1:g.40758273A>G	GRCh37
NC_000001.9:g.40530860A>G	NCBI36
NG_008695.1:g.39541A>G , LRG_212:g.39541A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372759.4:c.1360A>G MANE Select	ENSP00000361845.3:p.Met454Val
ENST00000674703.1:c.*1201A>G	ENSP00000501674.1:n.*1201A>G
ENST00000675754.1:c.*1102A>G	ENSP00000502555.1:n.*1102A>G
ENST00000675937.1:c.*605A>G	ENSP00000502683.1:n.*605A>G
ENST00000372759.3:c.1360A>G	ENSP00000361845.3:p.Met454Val
ENST00000474142.1:n.510A>G
NM_005857.4:c.1360A>G	NP_005848.2:p.Met454Val
XM_011540486.1:c.1111A>G	XP_011538788.1:p.Met371Val
XR_001736906.2:n.1747A>G
NM_005857.5:c.1360A>G MANE Select	NP_005848.2:p.Met454Val