Canonical Allele Identifier: CA419205842
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102998325A>T , CM000663.2:g.102998325A>T GRCh38
NC_000001.10:g.103463881A>T , CM000663.1:g.103463881A>T GRCh37
NC_000001.9:g.103236469A>T NCBI36
NG_008033.1:g.115172T>A
NG_008033.2:g.115172T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2181T>A MANE Select ENSP00000359114.3:p.Gly727=
ENST00000353414.8:c.2064T>A ENSP00000302551.6:p.Gly688=
ENST00000358392.6:c.2217T>A ENSP00000351163.2:p.Gly739=
ENST00000370096.7:c.2181T>A ENSP00000359114.3:p.Gly727=
ENST00000512756.5:c.1833T>A ENSP00000426533.1:p.Gly611=
ENST00000635193.1:c.1499T>A
NM_001190709.1:c.2064T>A NP_001177638.1:p.Gly688=
NM_001854.3:c.2181T>A NP_001845.3:p.Gly727=
NM_080629.2:c.2217T>A NP_542196.2:p.Gly739=
NM_080630.3:c.1833T>A NP_542197.3:p.Gly611=
XM_011540719.1:c.2181T>A XP_011539021.1:p.Gly727=
XM_011540720.1:c.414T>A XP_011539022.1:p.Gly138=
XM_011540721.1:c.-248T>A XP_011539023.1:n.-248T>A
XR_946545.1:n.2579T>A
NR_134980.1:n.2499T>A
XM_017000334.1:c.2334T>A XP_016855823.1:p.Gly778=
XM_017000335.1:c.2328T>A XP_016855824.1:p.Gly776=
XM_017000336.1:c.2334T>A XP_016855825.1:p.Gly778=
XM_017000337.1:c.732T>A XP_016855826.1:p.Gly244=
NM_001854.4:c.2181T>A MANE Select NP_001845.3:p.Gly727=
NM_080630.4:c.1833T>A NP_542197.3:p.Gly611=
NR_134980.2:n.2525T>A
NM_001190709.2:c.2064T>A NP_001177638.1:p.Gly688=
NM_080629.3:c.2217T>A NP_542196.2:p.Gly739=