Canonical Allele Identifier: CA4893262
Community Standard Title: NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile)
Gene: TRAPPC9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.140287641C>T , CM000670.2:g.140287641C>T GRCh38
NC_000008.10:g.141297740C>T , CM000670.1:g.141297740C>T GRCh37
NC_000008.9:g.141366922C>T NCBI36
NG_016478.2:g.175939G>A
NG_016478.3:g.175939G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001160372.4:c.1948G>A MANE Select NP_001153844.1:p.Val650Ile
ENST00000438773.4:c.1948G>A MANE Select ENSP00000405060.3:p.Val650Ile
NM_001160372.2:c.1948G>A NP_001153844.1:p.Val650Ile
NM_001160372.3:c.1948G>A NP_001153844.1:p.Val650Ile
NM_001321646.1:c.1921G>A NP_001308575.1:p.Val641Ile
NM_001321646.2:c.1921G>A NP_001308575.1:p.Val641Ile
NM_001374682.1:c.1969G>A NP_001361611.1:p.Val657Ile
NM_001374683.1:c.1948G>A NP_001361612.1:p.Val650Ile
NM_001374684.1:c.1804G>A NP_001361613.1:p.Val602Ile
NM_031466.6:c.2242G>A NP_113654.4:p.Val748Ile
NM_031466.7:c.2242G>A NP_113654.4:p.Val748Ile
NM_031466.8:c.1948G>A NP_113654.5:p.Val650Ile
NR_164662.1:n.2037G>A
ENST00000389328.8:c.2242G>A ENSP00000373979.4:p.Val748Ile
ENST00000438773.2:c.1948G>A ENSP00000405060.2:p.Val650Ile
ENST00000520857.5:c.1478G>A
ENST00000521167.1:n.477G>A
ENST00000521667.5:n.353G>A
ENST00000648948.2:c.1948G>A ENSP00000498020.1:p.Val650Ile
XM_005251077.3:c.1948G>A XP_005251134.1:p.Val650Ile
XM_011517326.1:c.2215G>A XP_011515628.1:p.Val739Ile
XM_011517326.2:c.2215G>A XP_011515628.1:p.Val739Ile
XM_011517327.1:c.2242G>A XP_011515629.1:p.Val748Ile
XM_011517328.1:c.2242G>A XP_011515630.1:p.Val748Ile
XM_011517328.2:c.2242G>A XP_011515630.1:p.Val748Ile
XM_011517329.1:c.1336G>A XP_011515631.1:p.Val446Ile
XM_011517330.1:c.397G>A XP_011515632.1:p.Val133Ile
XM_011517330.2:c.397G>A XP_011515632.1:p.Val133Ile
XM_017013893.1:c.2242G>A XP_016869382.1:p.Val748Ile
XM_017013894.2:c.568G>A XP_016869383.1:p.Val190Ile
XR_928355.1:n.2257G>A
XR_928355.2:n.2257G>A