Canonical Allele Identifier: CA186523159

Gene: TRAPPC9

Linked Data

• dbSNP Id: rs891913550
• gnomAD v2: 8-141370285-G-A
• gnomAD v3: 8-140360186-G-A
• gnomAD v4: 8-140360186-G-A
• MyVariant Identifiers: chr8:g.141370285G>A (hg19) ; chr8:g.140360186G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.140360186G>A , CM000670.2:g.140360186G>A	GRCh38
NC_000008.10:g.141370285G>A , CM000670.1:g.141370285G>A	GRCh37
NC_000008.9:g.141439467G>A	NCBI36
NG_016478.2:g.103394C>T
NG_016478.3:g.103394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438773.4:c.1359C>T MANE Select	ENSP00000405060.3:p.His453=
ENST00000648948.2:c.1359C>T	ENSP00000498020.1:p.His453=
ENST00000389328.8:c.1653C>T	ENSP00000373979.4:p.His551=
ENST00000438773.2:c.1359C>T	ENSP00000405060.2:p.His453=
ENST00000520857.5:c.889C>T
NM_001160372.2:c.1359C>T	NP_001153844.1:p.His453=
NM_031466.6:c.1653C>T	NP_113654.4:p.His551=
XM_005251077.3:c.1359C>T	XP_005251134.1:p.His453=
XM_011517326.1:c.1626C>T	XP_011515628.1:p.His542=
XM_011517327.1:c.1653C>T	XP_011515629.1:p.His551=
XM_011517328.1:c.1653C>T	XP_011515630.1:p.His551=
XM_011517329.1:c.747C>T	XP_011515631.1:p.His249=
XR_928355.1:n.1668C>T
NM_001160372.3:c.1359C>T	NP_001153844.1:p.His453=
NM_001321646.1:c.1332C>T	NP_001308575.1:p.His444=
NM_031466.7:c.1653C>T	NP_113654.4:p.His551=
XM_011517326.2:c.1626C>T	XP_011515628.1:p.His542=
XM_011517328.2:c.1653C>T	XP_011515630.1:p.His551=
XM_017013893.1:c.1653C>T	XP_016869382.1:p.His551=
XM_017013894.2:c.-22C>T	XP_016869383.1:n.-22C>T
XR_928355.2:n.1668C>T
NM_001160372.4:c.1359C>T MANE Select	NP_001153844.1:p.His453=
NM_001321646.2:c.1332C>T	NP_001308575.1:p.His444=
NM_001374682.1:c.1380C>T	NP_001361611.1:p.His460=
NM_001374683.1:c.1359C>T	NP_001361612.1:p.His453=
NM_001374684.1:c.1351+10778C>T	NP_001361613.1:n.1351+10778C>T
NM_031466.8:c.1359C>T	NP_113654.5:p.His453=
NR_164662.1:n.1448C>T