Canonical Allele Identifier: CA1185258769
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102946941G= , CM000663.2:g.102946941G= GRCh38
NC_000001.10:g.103412497G= , CM000663.1:g.103412497G= GRCh37
NC_000001.9:g.103185085G= NCBI36
NG_008033.1:g.166556C=
NG_008033.2:g.166556C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3184C= MANE Select ENSP00000359114.3:p.Arg1062=
ENST00000353414.8:c.3067C= ENSP00000302551.6:p.Arg1023=
ENST00000358392.6:c.3220C= ENSP00000351163.2:p.Arg1074=
ENST00000370096.7:c.3184C= ENSP00000359114.3:p.Arg1062=
ENST00000512756.5:c.2836C= ENSP00000426533.1:p.Arg946=
ENST00000635193.1:c.2518C=
NM_001190709.1:c.3067C= NP_001177638.1:p.Arg1023=
NM_001854.3:c.3184C= NP_001845.3:p.Arg1062=
NM_080629.2:c.3220C= NP_542196.2:p.Arg1074=
NM_080630.3:c.2836C= NP_542197.3:p.Arg946=
XM_011540719.1:c.3184C= XP_011539021.1:p.Arg1062=
XM_011540720.1:c.1417C= XP_011539022.1:p.Arg473=
XM_011540721.1:c.772C= XP_011539023.1:p.Arg258=
NR_134980.1:n.3518C=
XM_017000334.1:c.3337C= XP_016855823.1:p.Arg1113=
XM_017000335.1:c.3331C= XP_016855824.1:p.Arg1111=
XM_017000336.1:c.3337C= XP_016855825.1:p.Arg1113=
XM_017000337.1:c.1735C= XP_016855826.1:p.Arg579=
NM_001854.4:c.3184C= MANE Select NP_001845.3:p.Arg1062=
NM_080630.4:c.2836C= NP_542197.3:p.Arg946=
NR_134980.2:n.3544C=
NM_001190709.2:c.3067C= NP_001177638.1:p.Arg1023=
NM_080629.3:c.3220C= NP_542196.2:p.Arg1074=