Canonical Allele Identifier: CA791216

Gene: ZMPSTE24

Linked Data

• dbSNP Id: rs373944901
• ExAC: 1:40758266 G / A
• gnomAD v2: 1-40758266-G-A
• gnomAD v3: 1-40292594-G-A
• gnomAD v4: 1-40292594-G-A
• MyVariant Identifiers: chr1:g.40758266G>A (hg19) ; chr1:g.40292594G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40292594G>A , CM000663.2:g.40292594G>A	GRCh38
NC_000001.10:g.40758266G>A , CM000663.1:g.40758266G>A	GRCh37
NC_000001.9:g.40530853G>A	NCBI36
NG_008695.1:g.39534G>A , LRG_212:g.39534G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372759.4:c.1353G>A MANE Select	ENSP00000361845.3:p.Leu451=
ENST00000674703.1:c.*1194G>A	ENSP00000501674.1:n.*1194G>A
ENST00000675754.1:c.*1095G>A	ENSP00000502555.1:n.*1095G>A
ENST00000675937.1:c.*598G>A	ENSP00000502683.1:n.*598G>A
ENST00000372759.3:c.1353G>A	ENSP00000361845.3:p.Leu451=
ENST00000474142.1:n.503G>A
NM_005857.4:c.1353G>A	NP_005848.2:p.Leu451=
XM_011540486.1:c.1104G>A	XP_011538788.1:p.Leu368=
XR_001736906.2:n.1740G>A
NM_005857.5:c.1353G>A MANE Select	NP_005848.2:p.Leu451=