Canonical Allele Identifier: CA378101108

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99713445C>G , CM000672.2:g.99713445C>G GRCh38
NC_000010.10:g.101473202C>G , CM000672.1:g.101473202C>G GRCh37
NC_000010.9:g.101463192C>G NCBI36
NG_008986.1:g.24222G>C , LRG_406:g.24222G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000016171.6:c.*1142G>C (COX15) MANE Select ENSP00000016171.6:n.*1142G>C
ENST00000649102.1:c.*460+2903G>C ENSP00000497114.1:n.*460+2903G>C
ENST00000370483.9:c.1136G>C (COX15) ENSP00000359514.5:p.Ser379Thr
ENST00000493385.5:n.117-9473C>G (CUTC)
NM_004376.5:c.1136G>C , LRG_406t2:c.1136G>C (COX15) NP_004367.2:p.Ser379Thr
NM_078470.4:c.*1142G>C , LRG_406t1:c.*1142G>C (COX15) NP_510870.1:n.*1142G>C
XM_005269539.3:c.1101+2903G>C (COX15) XP_005269596.1:n.1101+2903G>C
XM_006717633.2:c.*1323G>C (COX15) XP_006717696.1:n.*1323G>C
XM_006717634.2:c.*49+2903G>C (COX15) XP_006717697.1:n.*49+2903G>C
XM_011539298.1:c.*84G>C (COX15) XP_011537600.1:n.*84G>C
NM_001320974.1:c.1101+2903G>C (COX15) NP_001307903.1:n.1101+2903G>C
NM_001320975.1:c.*1323G>C (COX15) NP_001307904.1:n.*1323G>C
NM_001320976.1:c.*1142G>C (COX15) NP_001307905.1:n.*1142G>C
NM_004376.6:c.1136G>C (COX15) NP_004367.2:p.Ser379Thr
NM_078470.5:c.*1142G>C (COX15) NP_510870.1:n.*1142G>C
XM_006717634.3:c.*49+2903G>C (COX15) XP_006717697.1:n.*49+2903G>C
XM_011539298.2:c.*84G>C (COX15) XP_011537600.1:n.*84G>C
NM_001320974.2:c.1101+2903G>C (COX15) NP_001307903.1:n.1101+2903G>C
NM_001320975.2:c.*1323G>C (COX15) NP_001307904.1:n.*1323G>C
NM_001320976.2:c.*1142G>C (COX15) NP_001307905.1:n.*1142G>C
NM_001372024.1:c.*361G>C (COX15) NP_001358953.1:n.*361G>C
NM_001372025.1:c.*1142G>C (COX15) NP_001358954.1:n.*1142G>C
NM_001372026.1:c.*1142G>C (COX15) NP_001358955.1:n.*1142G>C
NM_001372027.1:c.*1246G>C (COX15) NP_001358956.1:n.*1246G>C
NM_001372028.1:c.*569G>C (COX15) NP_001358957.1:n.*569G>C
NM_004376.7:c.1136G>C (COX15) NP_004367.2:p.Ser379Thr
NM_078470.6:c.*1142G>C (COX15) MANE Select NP_510870.1:n.*1142G>C
NR_164009.1:n.2215G>C (COX15)