Canonical Allele Identifier: CA345740513
Gene: TRAPPC12 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3388302T>C , CM000664.2:g.3388302T>C GRCh38
NC_000002.11:g.3392073T>C , CM000664.1:g.3392073T>C GRCh37
NC_000002.10:g.3371080T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000324266.10:c.679T>C MANE Select ENSP00000324318.5:p.Phe227Leu
ENST00000324266.9:c.679T>C ENSP00000324318.5:p.Phe227Leu
ENST00000382110.6:c.679T>C ENSP00000371544.2:p.Phe227Leu
ENST00000411973.3:c.176T>C
ENST00000482645.1:n.840T>C
NM_016030.5:c.679T>C NP_057114.5:p.Phe227Leu
XM_005264693.2:c.679T>C XP_005264750.1:p.Phe227Leu
XM_011510350.1:c.679T>C XP_011508652.1:p.Phe227Leu
XM_011510351.1:c.679T>C XP_011508653.1:p.Phe227Leu
XM_011510352.1:c.679T>C XP_011508654.1:p.Phe227Leu
XM_011510353.1:c.679T>C XP_011508655.1:p.Phe227Leu
XM_011510354.1:c.679T>C XP_011508656.1:p.Phe227Leu
XR_426956.2:n.877T>C
XR_922679.1:n.888T>C
NM_001321102.1:c.679T>C NP_001308031.1:p.Phe227Leu
XM_011510350.2:c.679T>C XP_011508652.1:p.Phe227Leu
XM_011510352.2:c.679T>C XP_011508654.1:p.Phe227Leu
XM_011510353.2:c.679T>C XP_011508655.1:p.Phe227Leu
XM_011510354.2:c.679T>C XP_011508656.1:p.Phe227Leu
XM_017004257.1:c.679T>C XP_016859746.1:p.Phe227Leu
XR_001738761.1:n.1315T>C
XR_001738762.1:n.1315T>C
XR_426956.3:n.1315T>C
NM_016030.6:c.679T>C MANE Select NP_057114.5:p.Phe227Leu
NM_001321102.2:c.679T>C NP_001308031.1:p.Phe227Leu