Canonical Allele Identifier: CA354887461
Community Standard Title: NM_182943.3(PLOD2):c.121G>A (p.Val41Ile)
Gene: PLOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.146124218C>T , CM000665.2:g.146124218C>T GRCh38
NC_000003.11:g.145842005C>T , CM000665.1:g.145842005C>T GRCh37
NC_000003.10:g.147324695C>T NCBI36
NG_009251.1:g.42278G>A

Transcript Alleles

HGVS Amino-acid Change
NM_182943.3:c.121G>A MANE Select NP_891988.1:p.Val41Ile
ENST00000282903.10:c.121G>A MANE Select ENSP00000282903.5:p.Val41Ile
NM_000935.2:c.121G>A NP_000926.2:p.Val41Ile
NM_000935.3:c.121G>A NP_000926.2:p.Val41Ile
NM_182943.2:c.121G>A NP_891988.1:p.Val41Ile
ENST00000282903.9:c.121G>A ENSP00000282903.5:p.Val41Ile
ENST00000360060.7:c.121G>A ENSP00000353170.3:p.Val41Ile
ENST00000469350.5:c.37G>A ENSP00000419963.1:p.Val13Ile
ENST00000469350.6:c.37G>A ENSP00000419963.2:p.Val13Ile
ENST00000480704.1:c.121G>A ENSP00000419880.1:p.Val41Ile
ENST00000480704.2:c.121G>A ENSP00000419880.1:p.Val41Ile
ENST00000494950.5:c.-45G>A ENSP00000420094.1:n.-45G>A
ENST00000703518.1:c.121G>A ENSP00000515350.1:p.Val41Ile
ENST00000703519.1:n.14G>A
ENST00000703520.1:c.121G>A ENSP00000515351.1:p.Val41Ile
ENST00000703521.1:c.121G>A ENSP00000515352.1:p.Val41Ile
ENST00000703522.1:c.121G>A ENSP00000515353.1:p.Val41Ile
ENST00000703523.1:c.121G>A ENSP00000515354.1:p.Val41Ile
ENST00000703525.1:n.316G>A
ENST00000703527.1:c.121G>A ENSP00000515355.1:p.Val41Ile
ENST00000703528.1:c.-45G>A ENSP00000515356.1:n.-45G>A
ENST00000703529.1:n.316G>A
ENST00000706626.1:c.121G>A ENSP00000516472.1:p.Val41Ile
ENST00000706627.1:n.316G>A
ENST00000706634.1:n.316G>A
ENST00000706635.1:c.121G>A ENSP00000516475.1:p.Val41Ile
ENST00000706636.1:c.121G>A ENSP00000516476.1:p.Val41Ile
XM_005247535.3:c.-217G>A XP_005247592.1:n.-217G>A
XM_005247535.4:c.-217G>A XP_005247592.1:n.-217G>A
XM_005247536.3:c.121G>A XP_005247593.1:p.Val41Ile
XM_017006625.2:c.-280G>A XP_016862114.1:n.-280G>A
XM_024453599.1:c.-217G>A XP_024309367.1:n.-217G>A
XR_001740176.2:n.316G>A