Canonical Allele Identifier: CA1185258701
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102946899G= , CM000663.2:g.102946899G= GRCh38
NC_000001.10:g.103412455G= , CM000663.1:g.103412455G= GRCh37
NC_000001.9:g.103185043G= NCBI36
NG_008033.1:g.166598C=
NG_008033.2:g.166598C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3226C= MANE Select ENSP00000359114.3:p.Arg1076=
ENST00000353414.8:c.3109C= ENSP00000302551.6:p.Arg1037=
ENST00000358392.6:c.3262C= ENSP00000351163.2:p.Arg1088=
ENST00000370096.7:c.3226C= ENSP00000359114.3:p.Arg1076=
ENST00000512756.5:c.2878C= ENSP00000426533.1:p.Arg960=
ENST00000635193.1:c.2560C=
NM_001190709.1:c.3109C= NP_001177638.1:p.Arg1037=
NM_001854.3:c.3226C= NP_001845.3:p.Arg1076=
NM_080629.2:c.3262C= NP_542196.2:p.Arg1088=
NM_080630.3:c.2878C= NP_542197.3:p.Arg960=
XM_011540719.1:c.3226C= XP_011539021.1:p.Arg1076=
XM_011540720.1:c.1459C= XP_011539022.1:p.Arg487=
XM_011540721.1:c.814C= XP_011539023.1:p.Arg272=
NR_134980.1:n.3560C=
XM_017000334.1:c.3379C= XP_016855823.1:p.Arg1127=
XM_017000335.1:c.3373C= XP_016855824.1:p.Arg1125=
XM_017000336.1:c.3379C= XP_016855825.1:p.Arg1127=
XM_017000337.1:c.1777C= XP_016855826.1:p.Arg593=
NM_001854.4:c.3226C= MANE Select NP_001845.3:p.Arg1076=
NM_080630.4:c.2878C= NP_542197.3:p.Arg960=
NR_134980.2:n.3586C=
NM_001190709.2:c.3109C= NP_001177638.1:p.Arg1037=
NM_080629.3:c.3262C= NP_542196.2:p.Arg1088=