Canonical Allele Identifier: CA339872484

Gene: ZMPSTE24

Linked Data

• MyVariant Identifiers: chr1:g.40758262G>C (hg19) ; chr1:g.40292590G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40292590G>C , CM000663.2:g.40292590G>C	GRCh38
NC_000001.10:g.40758262G>C , CM000663.1:g.40758262G>C	GRCh37
NC_000001.9:g.40530849G>C	NCBI36
NG_008695.1:g.39530G>C , LRG_212:g.39530G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372759.4:c.1349G>C MANE Select	ENSP00000361845.3:p.Trp450Ser
ENST00000674703.1:c.*1190G>C	ENSP00000501674.1:n.*1190G>C
ENST00000675754.1:c.*1091G>C	ENSP00000502555.1:n.*1091G>C
ENST00000675937.1:c.*594G>C	ENSP00000502683.1:n.*594G>C
ENST00000372759.3:c.1349G>C	ENSP00000361845.3:p.Trp450Ser
ENST00000474142.1:n.499G>C
NM_005857.4:c.1349G>C	NP_005848.2:p.Trp450Ser
XM_011540486.1:c.1100G>C	XP_011538788.1:p.Trp367Ser
XR_001736906.2:n.1736G>C
NM_005857.5:c.1349G>C MANE Select	NP_005848.2:p.Trp450Ser