Canonical Allele Identifier: CA367853170
Community Standard Title: NM_148912.4(ABHD11):c.635C>T (p.Thr212Ile)
Gene: ABHD11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73737082G>A , CM000669.2:g.73737082G>A GRCh38
NC_000007.13:g.73151412G>A , CM000669.1:g.73151412G>A GRCh37
NC_000007.12:g.72789348G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_148912.4:c.635C>T MANE Select NP_683710.2:p.Thr212Ile
ENST00000222800.8:c.635C>T MANE Select ENSP00000222800.4:p.Thr212Ile
NM_001145364.1:c.491C>T NP_001138836.1:p.Thr164Ile
NM_001145364.2:c.491C>T NP_001138836.1:p.Thr164Ile
NM_001145364.3:c.464C>T NP_001138836.2:p.Thr155Ile
NM_001301058.1:c.463-391C>T NP_001287987.1:n.463-391C>T
NM_001301058.2:c.436-391C>T NP_001287987.2:n.436-391C>T
NM_001321382.1:c.323C>T NP_001308311.1:p.Thr108Ile
NM_001321383.1:c.*432C>T NP_001308312.1:n.*432C>T
NM_148912.2:c.662C>T NP_683710.1:p.Thr221Ile
NM_148912.3:c.662C>T NP_683710.1:p.Thr221Ile
NM_148913.2:c.641C>T NP_683711.1:p.Thr214Ile
NM_148913.3:c.641C>T NP_683711.1:p.Thr214Ile
NM_148913.4:c.614C>T NP_683711.2:p.Thr205Ile
NR_026910.1:n.714C>T
NR_026912.1:n.890C>T
NR_026912.2:n.897C>T
NR_135627.1:n.671C>T
NR_135627.2:n.606C>T
NR_169872.1:n.662C>T
ENST00000222800.7:c.662C>T ENSP00000222800.3:p.Thr221Ile
ENST00000357419.8:c.*351C>T ENSP00000392945.2:n.*351C>T
ENST00000357419.9:c.*351C>T ENSP00000392945.3:n.*351C>T
ENST00000395147.8:c.491C>T ENSP00000378579.4:p.Thr164Ile
ENST00000395147.9:c.464C>T ENSP00000378579.5:p.Thr155Ile
ENST00000412965.5:c.543C>T
ENST00000437775.6:c.641C>T ENSP00000416970.2:p.Thr214Ile
ENST00000437775.7:c.614C>T ENSP00000416970.3:p.Thr205Ile
ENST00000437891.5:c.479C>T
ENST00000458339.5:c.463-391C>T ENSP00000397666.1:n.463-391C>T
ENST00000458339.6:c.436-391C>T ENSP00000397666.2:n.436-391C>T
ENST00000462381.1:n.311C>T
ENST00000486114.1:n.386C>T
ENST00000497897.5:n.811C>T
XM_006716143.2:c.633+139C>T XP_006716206.1:n.633+139C>T
XM_006716144.2:c.323C>T XP_006716207.1:p.Thr108Ile
XM_011516590.1:c.599C>T XP_011514892.1:p.Thr200Ile
XM_011516591.1:c.323C>T XP_011514893.1:p.Thr108Ile
XM_024446947.1:c.848C>T XP_024302715.1:p.Thr283Ile
XM_024446948.1:c.761C>T XP_024302716.1:p.Thr254Ile
XM_024446949.1:c.1019C>T XP_024302717.1:p.Thr340Ile
XM_024446950.1:c.820-391C>T XP_024302718.1:n.820-391C>T
XR_002956491.1:n.1027C>T
XR_428186.2:n.674C>T