Canonical Allele Identifier: CA10611148
Gene: ZMPSTE24 HGNC NCBI

Linked Data

ClinVar Variation Id: 297277
ClinVar RCV Id: RCV000263864 RCV000355792
dbSNP Id: rs1057515561
MyVariant Identifiers: chr1:g.40759833A>G (hg19) chr1:g.40294161A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40294161A>G , CM000663.2:g.40294161A>G GRCh38
NC_000001.10:g.40759833A>G , CM000663.1:g.40759833A>G GRCh37
NC_000001.9:g.40532420A>G NCBI36
NG_008695.1:g.41101A>G , LRG_212:g.41101A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372759.4:c.*1492A>G MANE Select ENSP00000361845.3:n.*1492A>G
ENST00000674703.1:c.*2761A>G ENSP00000501674.1:n.*2761A>G
ENST00000675754.1:c.*2662A>G ENSP00000502555.1:n.*2662A>G
ENST00000675937.1:c.*2165A>G ENSP00000502683.1:n.*2165A>G
ENST00000372759.3:c.*1492A>G ENSP00000361845.3:n.*1492A>G
NM_005857.4:c.*1492A>G NP_005848.2:n.*1492A>G
XM_011540486.1:c.*1492A>G XP_011538788.1:n.*1492A>G
NM_005857.5:c.*1492A>G MANE Select NP_005848.2:n.*1492A>G
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