Canonical Allele Identifier: CA1515600
Community Standard Title: NM_016030.6(TRAPPC12):c.1693G>A (p.Val565Met)
Gene: TRAPPC12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3465612G>A , CM000664.2:g.3465612G>A GRCh38
NC_000002.11:g.3469383G>A , CM000664.1:g.3469383G>A GRCh37
NC_000002.10:g.3448390G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016030.6:c.1693G>A MANE Select NP_057114.5:p.Val565Met
ENST00000324266.10:c.1693G>A MANE Select ENSP00000324318.5:p.Val565Met
NM_001321102.1:c.1693G>A NP_001308031.1:p.Val565Met
NM_001321102.2:c.1693G>A NP_001308031.1:p.Val565Met
NM_016030.5:c.1693G>A NP_057114.5:p.Val565Met
ENST00000324266.9:c.1693G>A ENSP00000324318.5:p.Val565Met
ENST00000382110.6:c.1693G>A ENSP00000371544.2:p.Val565Met
ENST00000415624.5:c.187G>A ENSP00000396592.1:p.Val63Met
ENST00000417243.5:c.527G>A
ENST00000433382.5:n.329G>A
ENST00000437733.5:c.266G>A ENSP00000406497.1:n.266G>A
ENST00000461577.5:n.422G>A
ENST00000469147.5:n.342G>A
ENST00000473348.5:n.239G>A
ENST00000479897.5:n.259G>A
ENST00000489032.5:n.71G>A
ENST00000497597.5:n.2781G>A
XM_005264693.2:c.1693G>A XP_005264750.1:p.Val565Met
XM_011510350.1:c.1579G>A XP_011508652.1:p.Val527Met
XM_011510350.2:c.1579G>A XP_011508652.1:p.Val527Met
XM_011510355.1:c.748G>A XP_011508657.1:p.Val250Met
XM_011510355.2:c.748G>A XP_011508657.1:p.Val250Met
XM_011510356.1:c.625G>A XP_011508658.1:p.Val209Met
XM_017004257.1:c.1693G>A XP_016859746.1:p.Val565Met
XR_001738762.1:n.2329G>A
XR_426956.2:n.1891G>A
XR_426956.3:n.2329G>A