Canonical Allele Identifier: CA521200776

Gene: PLOD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11958588_11958600dup , CM000663.2:g.11958588_11958600dup	GRCh38
NC_000001.10:g.12018645_12018657dup , CM000663.1:g.12018645_12018657dup	GRCh37
NC_000001.9:g.11941232_11941244dup	NCBI36
NG_008159.1:g.28900_28912dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000302.4:c.916_928dup MANE Select	NP_000293.2:p.Arg310ProfsTer?
ENST00000196061.5:c.916_928dup MANE Select	ENSP00000196061.4:p.Arg310ProfsTer?
NM_000302.3:c.916_928dup	NP_000293.2:p.Arg310ProfsTer?
NM_001316320.1:c.1057_1069dup	NP_001303249.1:p.Arg357ProfsTer?
NM_001316320.2:c.1057_1069dup	NP_001303249.1:p.Arg357ProfsTer?
ENST00000196061.4:c.916_928dup	ENSP00000196061.4:p.Arg310ProfsTer?
ENST00000485046.5:n.959_971dup
XM_011541594.1:c.997_1009dup	XP_011539896.1:p.Arg337ProfsTer?
XM_024447707.1:c.250_262dup	XP_024303475.1:p.Arg88ProfsTer?