Canonical Allele Identifier: CA393121927
Community Standard Title: NM_033238.3(PML):c.653T>C (p.Leu218Pro)
Gene: PML HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74022878T>C , CM000677.2:g.74022878T>C GRCh38
NC_000015.9:g.74315219T>C , CM000677.1:g.74315219T>C GRCh37
NC_000015.8:g.72102272T>C NCBI36
NG_029036.1:g.33206T>C

Transcript Alleles

HGVS Amino-acid Change
NM_033238.3:c.653T>C MANE Select NP_150241.2:p.Leu218Pro
ENST00000268058.8:c.653T>C MANE Select ENSP00000268058.3:p.Leu218Pro
NM_002675.3:c.653T>C NP_002666.1:p.Leu218Pro
NM_002675.4:c.653T>C NP_002666.1:p.Leu218Pro
NM_033238.2:c.653T>C NP_150241.2:p.Leu218Pro
NM_033239.2:c.653T>C NP_150242.1:p.Leu218Pro
NM_033239.3:c.653T>C NP_150242.1:p.Leu218Pro
NM_033240.2:c.653T>C NP_150243.2:p.Leu218Pro
NM_033240.3:c.653T>C NP_150243.2:p.Leu218Pro
NM_033244.3:c.653T>C NP_150247.2:p.Leu218Pro
NM_033244.4:c.653T>C NP_150247.2:p.Leu218Pro
NM_033246.2:c.653T>C NP_150249.1:p.Leu218Pro
NM_033246.3:c.653T>C NP_150249.1:p.Leu218Pro
NM_033247.2:c.653T>C NP_150250.2:p.Leu218Pro
NM_033247.3:c.653T>C NP_150250.2:p.Leu218Pro
NM_033249.2:c.653T>C NP_150252.1:p.Leu218Pro
NM_033249.3:c.653T>C NP_150252.1:p.Leu218Pro
NM_033250.2:c.653T>C NP_150253.2:p.Leu218Pro
NM_033250.3:c.653T>C NP_150253.2:p.Leu218Pro
ENST00000268058.7:c.653T>C ENSP00000268058.3:p.Leu218Pro
ENST00000268059.10:c.653T>C ENSP00000268059.6:p.Leu218Pro
ENST00000354026.10:c.653T>C ENSP00000315434.8:p.Leu218Pro
ENST00000359928.8:c.653T>C ENSP00000353004.4:p.Leu218Pro
ENST00000395132.6:c.653T>C ENSP00000378564.2:p.Leu218Pro
ENST00000395135.7:c.653T>C ENSP00000378567.3:p.Leu218Pro
ENST00000435786.6:c.653T>C ENSP00000395576.2:p.Leu218Pro
ENST00000436891.7:c.653T>C ENSP00000394642.3:p.Leu218Pro
ENST00000563500.5:c.653T>C ENSP00000457032.1:p.Leu218Pro
ENST00000564428.5:c.653T>C ENSP00000457023.1:p.Leu218Pro
ENST00000564725.1:n.504T>C
ENST00000565898.5:c.653T>C ENSP00000455838.1:p.Leu218Pro
ENST00000567543.5:c.653T>C ENSP00000456277.1:p.Leu218Pro
ENST00000569477.5:c.653T>C ENSP00000455612.1:p.Leu218Pro
ENST00000569965.5:c.653T>C ENSP00000456486.1:p.Leu218Pro