Canonical Allele Identifier: CA3081803669
Community Standard Title: NM_001854.4(COL11A1):c.956C= (p.Thr319=)
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.103025555G= , CM000663.2:g.103025555G= GRCh38
NC_000001.10:g.103491111G= , CM000663.1:g.103491111G= GRCh37
NC_000001.9:g.103263699G= NCBI36
NG_008033.1:g.87942C=
NG_008033.2:g.87942C=

Transcript Alleles

HGVS Amino-acid Change
NM_001854.4:c.956C= MANE Select NP_001845.3:p.Thr319=
ENST00000370096.9:c.956C= MANE Select ENSP00000359114.3:p.Thr319=
NM_001190709.1:c.839C= NP_001177638.1:p.Thr280=
NM_001190709.2:c.839C= NP_001177638.1:p.Thr280=
NM_001854.3:c.956C= NP_001845.3:p.Thr319=
NM_080629.2:c.992C= NP_542196.2:p.Thr331=
NM_080629.3:c.992C= NP_542196.2:p.Thr331=
NM_080630.3:c.897+661C= NP_542197.3:n.897+661C=
NM_080630.4:c.897+661C= NP_542197.3:n.897+661C=
NR_134980.1:n.1274C=
NR_134980.2:n.1300C=
ENST00000353414.8:c.839C= ENSP00000302551.6:p.Thr280=
ENST00000358392.6:c.992C= ENSP00000351163.2:p.Thr331=
ENST00000370096.7:c.956C= ENSP00000359114.3:p.Thr319=
ENST00000427239.5:c.992C= ENSP00000408640.1:p.Thr331=
ENST00000461720.6:c.1109C= ENSP00000494909.1:p.Thr370=
ENST00000512756.5:c.897+661C= ENSP00000426533.1:n.897+661C=
ENST00000635193.1:c.274C=
ENST00000644186.1:c.956C= ENSP00000493821.1:p.Thr319=
ENST00000645458.1:c.956C= ENSP00000494179.1:p.Thr319=
ENST00000647280.1:c.956C= ENSP00000494583.1:p.Thr319=
XM_011540719.1:c.956C= XP_011539021.1:p.Thr319=
XM_011540721.1:c.-1473C= XP_011539023.1:n.-1473C=
XM_017000334.1:c.1109C= XP_016855823.1:p.Thr370=
XM_017000335.1:c.1103C= XP_016855824.1:p.Thr368=
XM_017000336.1:c.1109C= XP_016855825.1:p.Thr370=
XR_946545.1:n.1354C=