Canonical Allele Identifier: CA339872501

Gene: ZMPSTE24

Linked Data

• MyVariant Identifiers: chr1:g.40758270T>G (hg19) ; chr1:g.40292598T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372759.4:c.1357T>G MANE Select	ENSP00000361845.3:p.Ser453Ala
ENST00000674703.1:c.*1198T>G	ENSP00000501674.1:n.*1198T>G
ENST00000675754.1:c.*1099T>G	ENSP00000502555.1:n.*1099T>G
ENST00000675937.1:c.*602T>G	ENSP00000502683.1:n.*602T>G
ENST00000372759.3:c.1357T>G	ENSP00000361845.3:p.Ser453Ala
ENST00000474142.1:n.507T>G
NM_005857.4:c.1357T>G	NP_005848.2:p.Ser453Ala
XM_011540486.1:c.1108T>G	XP_011538788.1:p.Ser370Ala
XR_001736906.2:n.1744T>G
NM_005857.5:c.1357T>G MANE Select	NP_005848.2:p.Ser453Ala