Canonical Allele Identifier: CA358870967
Community Standard Title: NM_021942.6(TRAPPC11):c.2169C>A (p.Phe723Leu)
Gene: TRAPPC11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.183693079C>A , CM000666.2:g.183693079C>A GRCh38
NC_000004.11:g.184614232C>A , CM000666.1:g.184614232C>A GRCh37
NC_000004.10:g.184851226C>A NCBI36
NG_033102.1:g.38813C>A

Transcript Alleles

HGVS Amino-acid Change
NM_021942.6:c.2169C>A MANE Select NP_068761.4:p.Phe723Leu
ENST00000334690.11:c.2169C>A MANE Select ENSP00000335371.6:p.Phe723Leu
NM_021942.5:c.2169C>A NP_068761.4:p.Phe723Leu
NM_199053.2:c.2169C>A NP_951008.1:p.Phe723Leu
NM_199053.3:c.2169C>A NP_951008.1:p.Phe723Leu
ENST00000334690.10:c.2169C>A ENSP00000335371.6:p.Phe723Leu
ENST00000357207.8:c.2169C>A ENSP00000349738.4:p.Phe723Leu
ENST00000505676.5:c.*283C>A ENSP00000422915.1:n.*283C>A
ENST00000512476.1:c.987C>A ENSP00000421004.1:p.Phe329Leu
XM_011532180.1:c.2169C>A XP_011530482.1:p.Phe723Leu
XM_017008537.2:c.2169C>A XP_016864026.1:p.Phe723Leu
XM_017008538.2:c.2169C>A XP_016864027.1:p.Phe723Leu
XM_024454179.1:c.2169C>A XP_024309947.1:p.Phe723Leu
XM_024454180.1:c.2169C>A XP_024309948.1:p.Phe723Leu
XM_024454181.1:c.819C>A XP_024309949.1:p.Phe273Leu
XR_001741315.2:n.2361C>A