Canonical Allele Identifier: CA1144228915
Community Standard Title: NM_001854.4(COL11A1):c.3241G= (p.Gly1081=)
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102946884C= , CM000663.2:g.102946884C= GRCh38
NC_000001.10:g.103412440C= , CM000663.1:g.103412440C= GRCh37
NC_000001.9:g.103185028C= NCBI36
NG_008033.1:g.166613G=
NG_008033.2:g.166613G=

Transcript Alleles

HGVS Amino-acid Change
NM_001854.4:c.3241G= MANE Select NP_001845.3:p.Gly1081=
ENST00000370096.9:c.3241G= MANE Select ENSP00000359114.3:p.Gly1081=
NM_001190709.1:c.3124G= NP_001177638.1:p.Gly1042=
NM_001190709.2:c.3124G= NP_001177638.1:p.Gly1042=
NM_001854.3:c.3241G= NP_001845.3:p.Gly1081=
NM_080629.2:c.3277G= NP_542196.2:p.Gly1093=
NM_080629.3:c.3277G= NP_542196.2:p.Gly1093=
NM_080630.3:c.2893G= NP_542197.3:p.Gly965=
NM_080630.4:c.2893G= NP_542197.3:p.Gly965=
NR_134980.1:n.3575G=
NR_134980.2:n.3601G=
ENST00000353414.8:c.3124G= ENSP00000302551.6:p.Gly1042=
ENST00000358392.6:c.3277G= ENSP00000351163.2:p.Gly1093=
ENST00000370096.7:c.3241G= ENSP00000359114.3:p.Gly1081=
ENST00000512756.5:c.2893G= ENSP00000426533.1:p.Gly965=
ENST00000635193.1:c.2575G=
XM_011540719.1:c.3241G= XP_011539021.1:p.Gly1081=
XM_011540720.1:c.1474G= XP_011539022.1:p.Gly492=
XM_011540721.1:c.829G= XP_011539023.1:p.Gly277=
XM_017000334.1:c.3394G= XP_016855823.1:p.Gly1132=
XM_017000335.1:c.3388G= XP_016855824.1:p.Gly1130=
XM_017000336.1:c.3394G= XP_016855825.1:p.Gly1132=
XM_017000337.1:c.1792G= XP_016855826.1:p.Gly598=