Canonical Allele Identifier: CA791215

Gene: ZMPSTE24

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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