Canonical Allele Identifier: CA1185258662
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102946885C= , CM000663.2:g.102946885C= GRCh38
NC_000001.10:g.103412441C= , CM000663.1:g.103412441C= GRCh37
NC_000001.9:g.103185029C= NCBI36
NG_008033.1:g.166612G=
NG_008033.2:g.166612G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3240G= MANE Select ENSP00000359114.3:p.Gln1080=
ENST00000353414.8:c.3123G= ENSP00000302551.6:p.Gln1041=
ENST00000358392.6:c.3276G= ENSP00000351163.2:p.Gln1092=
ENST00000370096.7:c.3240G= ENSP00000359114.3:p.Gln1080=
ENST00000512756.5:c.2892G= ENSP00000426533.1:p.Gln964=
ENST00000635193.1:c.2574G=
NM_001190709.1:c.3123G= NP_001177638.1:p.Gln1041=
NM_001854.3:c.3240G= NP_001845.3:p.Gln1080=
NM_080629.2:c.3276G= NP_542196.2:p.Gln1092=
NM_080630.3:c.2892G= NP_542197.3:p.Gln964=
XM_011540719.1:c.3240G= XP_011539021.1:p.Gln1080=
XM_011540720.1:c.1473G= XP_011539022.1:p.Gln491=
XM_011540721.1:c.828G= XP_011539023.1:p.Gln276=
NR_134980.1:n.3574G=
XM_017000334.1:c.3393G= XP_016855823.1:p.Gln1131=
XM_017000335.1:c.3387G= XP_016855824.1:p.Gln1129=
XM_017000336.1:c.3393G= XP_016855825.1:p.Gln1131=
XM_017000337.1:c.1791G= XP_016855826.1:p.Gln597=
NM_001854.4:c.3240G= MANE Select NP_001845.3:p.Gln1080=
NM_080630.4:c.2892G= NP_542197.3:p.Gln964=
NR_134980.2:n.3600G=
NM_001190709.2:c.3123G= NP_001177638.1:p.Gln1041=
NM_080629.3:c.3276G= NP_542196.2:p.Gln1092=