Canonical Allele Identifier: CA187267344
Community Standard Title: NM_001160372.4(TRAPPC9):c.2278+247C>G
Gene: TRAPPC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.140275411G>C , CM000670.2:g.140275411G>C GRCh38
NC_000008.10:g.141285510G>C , CM000670.1:g.141285510G>C GRCh37
NC_000008.9:g.141354692G>C NCBI36
NG_016478.2:g.188169C>G
NG_016478.3:g.188169C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001160372.4:c.2278+247C>G MANE Select NP_001153844.1:n.2278+247C>G
ENST00000438773.4:c.2278+247C>G MANE Select ENSP00000405060.3:n.2278+247C>G
NM_001160372.2:c.2278+247C>G NP_001153844.1:n.2278+247C>G
NM_001160372.3:c.2278+247C>G NP_001153844.1:n.2278+247C>G
NM_001321646.1:c.2251+247C>G NP_001308575.1:n.2251+247C>G
NM_001321646.2:c.2251+247C>G NP_001308575.1:n.2251+247C>G
NM_001374682.1:c.2299+247C>G NP_001361611.1:n.2299+247C>G
NM_001374683.1:c.2278+247C>G NP_001361612.1:n.2278+247C>G
NM_001374684.1:c.2134+247C>G NP_001361613.1:n.2134+247C>G
NM_031466.6:c.2572+247C>G NP_113654.4:n.2572+247C>G
NM_031466.7:c.2572+247C>G NP_113654.4:n.2572+247C>G
NM_031466.8:c.2278+247C>G NP_113654.5:n.2278+247C>G
NR_164662.1:n.2367+247C>G
ENST00000389328.8:c.2572+247C>G ENSP00000373979.4:n.2572+247C>G
ENST00000438773.2:c.2278+247C>G ENSP00000405060.2:n.2278+247C>G
ENST00000520857.5:c.1808+247C>G
ENST00000521667.5:n.683+247C>G
ENST00000634178.1:c.96+247C>G
ENST00000648948.2:c.2278+247C>G ENSP00000498020.1:n.2278+247C>G
XM_005251077.3:c.2278+247C>G XP_005251134.1:n.2278+247C>G
XM_011517326.1:c.2545+247C>G XP_011515628.1:n.2545+247C>G
XM_011517326.2:c.2545+247C>G XP_011515628.1:n.2545+247C>G
XM_011517327.1:c.2572+247C>G XP_011515629.1:n.2572+247C>G
XM_011517328.1:c.2572+247C>G XP_011515630.1:n.2572+247C>G
XM_011517328.2:c.2572+247C>G XP_011515630.1:n.2572+247C>G
XM_011517329.1:c.1666+247C>G XP_011515631.1:n.1666+247C>G
XM_011517330.1:c.727+247C>G XP_011515632.1:n.727+247C>G
XM_011517330.2:c.727+247C>G XP_011515632.1:n.727+247C>G
XM_017013893.1:c.2572+247C>G XP_016869382.1:n.2572+247C>G
XM_017013894.2:c.898+247C>G XP_016869383.1:n.898+247C>G
XR_001746116.1:n.2749-6224G>C
XR_001746117.1:n.2749-6224G>C
XR_928355.1:n.2587+247C>G
XR_928355.2:n.2587+247C>G
XR_928701.1:n.1231-6224G>C
XR_928701.2:n.1170-6224G>C
XR_928702.1:n.1231-6224G>C