Canonical Allele Identifier: CA1185292195
Community Standard Title: NM_001854.4(COL11A1):c.924A= (p.Glu308=)
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.103025587T= , CM000663.2:g.103025587T= GRCh38
NC_000001.10:g.103491143T= , CM000663.1:g.103491143T= GRCh37
NC_000001.9:g.103263731T= NCBI36
NG_008033.1:g.87910A=
NG_008033.2:g.87910A=

Transcript Alleles

HGVS Amino-acid Change
NM_001854.4:c.924A= MANE Select NP_001845.3:p.Glu308=
ENST00000370096.9:c.924A= MANE Select ENSP00000359114.3:p.Glu308=
NM_001190709.1:c.807A= NP_001177638.1:p.Glu269=
NM_001190709.2:c.807A= NP_001177638.1:p.Glu269=
NM_001854.3:c.924A= NP_001845.3:p.Glu308=
NM_080629.2:c.960A= NP_542196.2:p.Glu320=
NM_080629.3:c.960A= NP_542196.2:p.Glu320=
NM_080630.3:c.897+629A= NP_542197.3:n.897+629A=
NM_080630.4:c.897+629A= NP_542197.3:n.897+629A=
NR_134980.1:n.1242A=
NR_134980.2:n.1268A=
ENST00000353414.8:c.807A= ENSP00000302551.6:p.Glu269=
ENST00000358392.6:c.960A= ENSP00000351163.2:p.Glu320=
ENST00000370096.7:c.924A= ENSP00000359114.3:p.Glu308=
ENST00000427239.5:c.960A= ENSP00000408640.1:p.Glu320=
ENST00000461720.6:c.1077A= ENSP00000494909.1:p.Glu359=
ENST00000512756.5:c.897+629A= ENSP00000426533.1:n.897+629A=
ENST00000635193.1:c.242A=
ENST00000644186.1:c.924A= ENSP00000493821.1:p.Glu308=
ENST00000645458.1:c.924A= ENSP00000494179.1:p.Glu308=
ENST00000647280.1:c.924A= ENSP00000494583.1:p.Glu308=
XM_011540719.1:c.924A= XP_011539021.1:p.Glu308=
XM_011540721.1:c.-1505A= XP_011539023.1:n.-1505A=
XM_017000334.1:c.1077A= XP_016855823.1:p.Glu359=
XM_017000335.1:c.1071A= XP_016855824.1:p.Glu357=
XM_017000336.1:c.1077A= XP_016855825.1:p.Glu359=
XR_946545.1:n.1322A=