Canonical Allele Identifier: CA791217

Gene: ZMPSTE24

Linked Data

• dbSNP Id: rs763585122
• ExAC: 1:40758270 T / C
• gnomAD v2: 1-40758270-T-C
• gnomAD v4: 1-40292598-T-C
• MyVariant Identifiers: chr1:g.40758270T>C (hg19) ; chr1:g.40292598T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40292598T>C , CM000663.2:g.40292598T>C	GRCh38
NC_000001.10:g.40758270T>C , CM000663.1:g.40758270T>C	GRCh37
NC_000001.9:g.40530857T>C	NCBI36
NG_008695.1:g.39538T>C , LRG_212:g.39538T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372759.4:c.1357T>C MANE Select	ENSP00000361845.3:p.Ser453Pro
ENST00000674703.1:c.*1198T>C	ENSP00000501674.1:n.*1198T>C
ENST00000675754.1:c.*1099T>C	ENSP00000502555.1:n.*1099T>C
ENST00000675937.1:c.*602T>C	ENSP00000502683.1:n.*602T>C
ENST00000372759.3:c.1357T>C	ENSP00000361845.3:p.Ser453Pro
ENST00000474142.1:n.507T>C
NM_005857.4:c.1357T>C	NP_005848.2:p.Ser453Pro
XM_011540486.1:c.1108T>C	XP_011538788.1:p.Ser370Pro
XR_001736906.2:n.1744T>C
NM_005857.5:c.1357T>C MANE Select	NP_005848.2:p.Ser453Pro