Canonical Allele Identifier: CA1185276622
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102989568C= , CM000663.2:g.102989568C= GRCh38
NC_000001.10:g.103455124C= , CM000663.1:g.103455124C= GRCh37
NC_000001.9:g.103227712C= NCBI36
NG_008033.1:g.123929G=
NG_008033.2:g.123929G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2344G= MANE Select ENSP00000359114.3:p.Glu782=
ENST00000353414.8:c.2227G= ENSP00000302551.6:p.Glu743=
ENST00000358392.6:c.2380G= ENSP00000351163.2:p.Glu794=
ENST00000370096.7:c.2344G= ENSP00000359114.3:p.Glu782=
ENST00000512756.5:c.1996G= ENSP00000426533.1:p.Glu666=
ENST00000635193.1:c.1662G=
NM_001190709.1:c.2227G= NP_001177638.1:p.Glu743=
NM_001854.3:c.2344G= NP_001845.3:p.Glu782=
NM_080629.2:c.2380G= NP_542196.2:p.Glu794=
NM_080630.3:c.1996G= NP_542197.3:p.Glu666=
XM_011540719.1:c.2344G= XP_011539021.1:p.Glu782=
XM_011540720.1:c.577G= XP_011539022.1:p.Glu193=
XM_011540721.1:c.-85G= XP_011539023.1:n.-85G=
XR_946545.1:n.2742G=
NR_134980.1:n.2662G=
XM_017000334.1:c.2497G= XP_016855823.1:p.Glu833=
XM_017000335.1:c.2491G= XP_016855824.1:p.Glu831=
XM_017000336.1:c.2497G= XP_016855825.1:p.Glu833=
XM_017000337.1:c.895G= XP_016855826.1:p.Glu299=
NM_001854.4:c.2344G= MANE Select NP_001845.3:p.Glu782=
NM_080630.4:c.1996G= NP_542197.3:p.Glu666=
NR_134980.2:n.2688G=
NM_001190709.2:c.2227G= NP_001177638.1:p.Glu743=
NM_080629.3:c.2380G= NP_542196.2:p.Glu794=