Canonical Allele Identifier: CA2580611405

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11949898_11949899delinsTA , CM000663.2:g.11949898_11949899delinsTA	GRCh38
NC_000001.10:g.12009955_12009956delinsTA , CM000663.1:g.12009955_12009956delinsTA	GRCh37
NC_000001.9:g.11932542_11932543delinsTA	NCBI36
NG_008159.1:g.20210_20211delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000196061.5:c.294_295delinsTA MANE Select	ENSP00000196061.4:p.Ala99Thr
ENST00000196061.4:c.294_295delinsTA	ENSP00000196061.4:p.Ala99Thr
ENST00000358133.5:n.340_341delinsTA
ENST00000429000.6:c.294_295delinsTA	ENSP00000405372.1:p.Ala99Thr
ENST00000449038.5:c.435_436delinsTA	ENSP00000414443.1:p.Ala146Thr
ENST00000485046.5:n.337_338delinsTA
NM_000302.3:c.294_295delinsTA	NP_000293.2:p.Ala99Thr
NM_001316320.1:c.435_436delinsTA	NP_001303249.1:p.Ala146Thr
XM_011541594.1:c.375_376delinsTA	XP_011539896.1:p.Ala126Thr
XM_024447707.1:c.-373_-372delinsTA	XP_024303475.1:n.-373_-372delinsTA
NM_000302.4:c.294_295delinsTA MANE Select	NP_000293.2:p.Ala99Thr
NM_001316320.2:c.435_436delinsTA	NP_001303249.1:p.Ala146Thr