Canonical Allele Identifier: CA408455888

Gene: ABHD12

Linked Data

• ClinVar Variation Id: 1946943
• ClinVar RCV Id: RCV002654095
• dbSNP Id: rs2088776946
• MyVariant Identifiers: chr20:g.25288644G>C (hg19) ; chr20:g.25308008G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25308008G>C , CM000682.2:g.25308008G>C	GRCh38
NC_000020.10:g.25288644G>C , CM000682.1:g.25288644G>C	GRCh37
NC_000020.9:g.25236644G>C	NCBI36
NG_028119.1:g.87975C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339157.10:c.825C>G MANE Select	ENSP00000341408.5:p.Phe275Leu
ENST00000376542.8:c.825C>G	ENSP00000365725.3:p.Phe275Leu
ENST00000465694.2:c.279C>G	ENSP00000459278.2:p.Phe93Leu
ENST00000671784.1:c.279C>G	ENSP00000500451.1:p.Phe93Leu
ENST00000671858.1:c.279C>G	ENSP00000500550.1:p.Phe93Leu
ENST00000672001.1:n.336C>G
ENST00000672114.1:c.279C>G	ENSP00000499945.1:p.Phe93Leu
ENST00000672258.1:c.279C>G	ENSP00000499868.1:p.Phe93Leu
ENST00000672331.1:c.279C>G	ENSP00000500286.1:p.Phe93Leu
ENST00000672358.1:c.279C>G	ENSP00000500062.1:p.Phe93Leu
ENST00000672406.1:c.*164C>G	ENSP00000500208.1:n.*164C>G
ENST00000672566.1:c.354C>G	ENSP00000500106.1:p.Phe118Leu
ENST00000672596.1:c.279C>G	ENSP00000500290.1:p.Phe93Leu
ENST00000672871.1:c.279C>G	ENSP00000499949.1:p.Phe93Leu
ENST00000673094.1:c.279C>G	ENSP00000500257.1:p.Phe93Leu
ENST00000673121.1:c.381C>G	ENSP00000499839.1:p.Phe127Leu
ENST00000673227.1:c.279C>G	ENSP00000500514.1:p.Phe93Leu
ENST00000673524.1:c.387C>G
ENST00000339157.9:c.825C>G	ENSP00000341408.5:p.Phe275Leu
ENST00000376542.7:c.825C>G	ENSP00000365725.3:p.Phe275Leu
ENST00000481556.1:n.479C>G
ENST00000491682.5:c.354C>G	ENSP00000459495.1:p.Phe118Leu
ENST00000576316.5:c.129C>G	ENSP00000459121.1:p.Phe43Leu
NM_001042472.2:c.825C>G	NP_001035937.1:p.Phe275Leu
NM_015600.4:c.825C>G	NP_056415.1:p.Phe275Leu
XM_005260698.1:c.825C>G	XP_005260755.1:p.Phe275Leu
XM_005260699.3:c.825C>G	XP_005260756.1:p.Phe275Leu
XM_005260700.1:c.354C>G	XP_005260757.1:p.Phe118Leu
XM_011529214.1:c.825C>G	XP_011527516.1:p.Phe275Leu
XM_011529215.1:c.354C>G	XP_011527517.1:p.Phe118Leu
XM_011529216.1:c.354C>G	XP_011527518.1:p.Phe118Leu
XM_011529217.1:c.168C>G	XP_011527519.1:p.Phe56Leu
XM_011529218.1:c.168C>G	XP_011527520.1:p.Phe56Leu
XM_011529214.2:c.825C>G	XP_011527516.1:p.Phe275Leu
XM_017027796.1:c.354C>G	XP_016883285.1:p.Phe118Leu
XR_002958465.1:n.835C>G
XR_002958466.1:n.955C>G
XR_002958467.1:n.514C>G
NM_001042472.3:c.825C>G MANE Select	NP_001035937.1:p.Phe275Leu
NM_015600.5:c.825C>G	NP_056415.1:p.Phe275Leu