Canonical Allele Identifier: CA339872493

Gene: ZMPSTE24

Linked Data

• gnomAD v4: 1-40292594-G-T
• MyVariant Identifiers: chr1:g.40758266G>T (hg19) ; chr1:g.40292594G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000372759.4:c.1353G>T MANE Select	ENSP00000361845.3:p.Leu451Phe
ENST00000674703.1:c.*1194G>T	ENSP00000501674.1:n.*1194G>T
ENST00000675754.1:c.*1095G>T	ENSP00000502555.1:n.*1095G>T
ENST00000675937.1:c.*598G>T	ENSP00000502683.1:n.*598G>T
ENST00000372759.3:c.1353G>T	ENSP00000361845.3:p.Leu451Phe
ENST00000474142.1:n.503G>T
NM_005857.4:c.1353G>T	NP_005848.2:p.Leu451Phe
XM_011540486.1:c.1104G>T	XP_011538788.1:p.Leu368Phe
XR_001736906.2:n.1740G>T
NM_005857.5:c.1353G>T MANE Select	NP_005848.2:p.Leu451Phe