Canonical Allele Identifier: CA1141580949
Community Standard Title: NM_001854.4(COL11A1):c.2927G= (p.Gly976=)
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102962750C= , CM000663.2:g.102962750C= GRCh38
NC_000001.10:g.103428306C= , CM000663.1:g.103428306C= GRCh37
NC_000001.9:g.103200894C= NCBI36
NG_008033.1:g.150747G=
NG_008033.2:g.150747G=

Transcript Alleles

HGVS Amino-acid Change
NM_001854.4:c.2927G= MANE Select NP_001845.3:p.Gly976=
ENST00000370096.9:c.2927G= MANE Select ENSP00000359114.3:p.Gly976=
NM_001190709.1:c.2810G= NP_001177638.1:p.Gly937=
NM_001190709.2:c.2810G= NP_001177638.1:p.Gly937=
NM_001854.3:c.2927G= NP_001845.3:p.Gly976=
NM_080629.2:c.2963G= NP_542196.2:p.Gly988=
NM_080629.3:c.2963G= NP_542196.2:p.Gly988=
NM_080630.3:c.2579G= NP_542197.3:p.Gly860=
NM_080630.4:c.2579G= NP_542197.3:p.Gly860=
NR_134980.1:n.3261G=
NR_134980.2:n.3287G=
ENST00000353414.8:c.2810G= ENSP00000302551.6:p.Gly937=
ENST00000358392.6:c.2963G= ENSP00000351163.2:p.Gly988=
ENST00000370096.7:c.2927G= ENSP00000359114.3:p.Gly976=
ENST00000512756.5:c.2579G= ENSP00000426533.1:p.Gly860=
ENST00000635193.1:c.2261G=
XM_011540719.1:c.2927G= XP_011539021.1:p.Gly976=
XM_011540720.1:c.1160G= XP_011539022.1:p.Gly387=
XM_011540721.1:c.515G= XP_011539023.1:p.Gly172=
XM_017000334.1:c.3080G= XP_016855823.1:p.Gly1027=
XM_017000335.1:c.3074G= XP_016855824.1:p.Gly1025=
XM_017000336.1:c.3080G= XP_016855825.1:p.Gly1027=
XM_017000337.1:c.1478G= XP_016855826.1:p.Gly493=
XR_946545.1:n.3341G=