Canonical Allele Identifier: CA417330138

Gene: ZMPSTE24

Linked Data

• MyVariant Identifiers: chr1:g.40758264T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40292592T>C , CM000663.2:g.40292592T>C	GRCh38
NC_000001.10:g.40758264T>C , CM000663.1:g.40758264T>C	GRCh37
NC_000001.9:g.40530851T>C	NCBI36
NG_008695.1:g.39532T>C , LRG_212:g.39532T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372759.4:c.1351T>C MANE Select	ENSP00000361845.3:p.Leu451=
ENST00000674703.1:c.*1192T>C	ENSP00000501674.1:n.*1192T>C
ENST00000675754.1:c.*1093T>C	ENSP00000502555.1:n.*1093T>C
ENST00000675937.1:c.*596T>C	ENSP00000502683.1:n.*596T>C
ENST00000372759.3:c.1351T>C	ENSP00000361845.3:p.Leu451=
ENST00000474142.1:n.501T>C
NM_005857.4:c.1351T>C	NP_005848.2:p.Leu451=
XM_011540486.1:c.1102T>C	XP_011538788.1:p.Leu368=
XR_001736906.2:n.1738T>C
NM_005857.5:c.1351T>C MANE Select	NP_005848.2:p.Leu451=