Canonical Allele Identifier: CA339872490

Gene: ZMPSTE24

Linked Data

• MyVariant Identifiers: chr1:g.40758265T>A (hg19) ; chr1:g.40292593T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40292593T>A , CM000663.2:g.40292593T>A	GRCh38
NC_000001.10:g.40758265T>A , CM000663.1:g.40758265T>A	GRCh37
NC_000001.9:g.40530852T>A	NCBI36
NG_008695.1:g.39533T>A , LRG_212:g.39533T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372759.4:c.1352T>A MANE Select	ENSP00000361845.3:p.Leu451Ter
ENST00000674703.1:c.*1193T>A	ENSP00000501674.1:n.*1193T>A
ENST00000675754.1:c.*1094T>A	ENSP00000502555.1:n.*1094T>A
ENST00000675937.1:c.*597T>A	ENSP00000502683.1:n.*597T>A
ENST00000372759.3:c.1352T>A	ENSP00000361845.3:p.Leu451Ter
ENST00000474142.1:n.502T>A
NM_005857.4:c.1352T>A	NP_005848.2:p.Leu451Ter
XM_011540486.1:c.1103T>A	XP_011538788.1:p.Leu368Ter
XR_001736906.2:n.1739T>A
NM_005857.5:c.1352T>A MANE Select	NP_005848.2:p.Leu451Ter