Canonical Allele Identifier: CA1185292185
Community Standard Title: NM_001854.4(COL11A1):c.947G= (p.Ser316=)
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.103025564C= , CM000663.2:g.103025564C= GRCh38
NC_000001.10:g.103491120C= , CM000663.1:g.103491120C= GRCh37
NC_000001.9:g.103263708C= NCBI36
NG_008033.1:g.87933G=
NG_008033.2:g.87933G=

Transcript Alleles

HGVS Amino-acid Change
NM_001854.4:c.947G= MANE Select NP_001845.3:p.Ser316=
ENST00000370096.9:c.947G= MANE Select ENSP00000359114.3:p.Ser316=
NM_001190709.1:c.830G= NP_001177638.1:p.Ser277=
NM_001190709.2:c.830G= NP_001177638.1:p.Ser277=
NM_001854.3:c.947G= NP_001845.3:p.Ser316=
NM_080629.2:c.983G= NP_542196.2:p.Ser328=
NM_080629.3:c.983G= NP_542196.2:p.Ser328=
NM_080630.3:c.897+652G= NP_542197.3:n.897+652G=
NM_080630.4:c.897+652G= NP_542197.3:n.897+652G=
NR_134980.1:n.1265G=
NR_134980.2:n.1291G=
ENST00000353414.8:c.830G= ENSP00000302551.6:p.Ser277=
ENST00000358392.6:c.983G= ENSP00000351163.2:p.Ser328=
ENST00000370096.7:c.947G= ENSP00000359114.3:p.Ser316=
ENST00000427239.5:c.983G= ENSP00000408640.1:p.Ser328=
ENST00000461720.6:c.1100G= ENSP00000494909.1:p.Ser367=
ENST00000512756.5:c.897+652G= ENSP00000426533.1:n.897+652G=
ENST00000635193.1:c.265G=
ENST00000644186.1:c.947G= ENSP00000493821.1:p.Ser316=
ENST00000645458.1:c.947G= ENSP00000494179.1:p.Ser316=
ENST00000647280.1:c.947G= ENSP00000494583.1:p.Ser316=
XM_011540719.1:c.947G= XP_011539021.1:p.Ser316=
XM_011540721.1:c.-1482G= XP_011539023.1:n.-1482G=
XM_017000334.1:c.1100G= XP_016855823.1:p.Ser367=
XM_017000335.1:c.1094G= XP_016855824.1:p.Ser365=
XM_017000336.1:c.1100G= XP_016855825.1:p.Ser367=
XR_946545.1:n.1345G=