Canonical Allele Identifier: CA1185276619
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102989565C= , CM000663.2:g.102989565C= GRCh38
NC_000001.10:g.103455121C= , CM000663.1:g.103455121C= GRCh37
NC_000001.9:g.103227709C= NCBI36
NG_008033.1:g.123932G=
NG_008033.2:g.123932G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2347G= MANE Select ENSP00000359114.3:p.Asp783=
ENST00000353414.8:c.2230G= ENSP00000302551.6:p.Asp744=
ENST00000358392.6:c.2383G= ENSP00000351163.2:p.Asp795=
ENST00000370096.7:c.2347G= ENSP00000359114.3:p.Asp783=
ENST00000512756.5:c.1999G= ENSP00000426533.1:p.Asp667=
ENST00000635193.1:c.1665G=
NM_001190709.1:c.2230G= NP_001177638.1:p.Asp744=
NM_001854.3:c.2347G= NP_001845.3:p.Asp783=
NM_080629.2:c.2383G= NP_542196.2:p.Asp795=
NM_080630.3:c.1999G= NP_542197.3:p.Asp667=
XM_011540719.1:c.2347G= XP_011539021.1:p.Asp783=
XM_011540720.1:c.580G= XP_011539022.1:p.Asp194=
XM_011540721.1:c.-82G= XP_011539023.1:n.-82G=
XR_946545.1:n.2745G=
NR_134980.1:n.2665G=
XM_017000334.1:c.2500G= XP_016855823.1:p.Asp834=
XM_017000335.1:c.2494G= XP_016855824.1:p.Asp832=
XM_017000336.1:c.2500G= XP_016855825.1:p.Asp834=
XM_017000337.1:c.898G= XP_016855826.1:p.Asp300=
NM_001854.4:c.2347G= MANE Select NP_001845.3:p.Asp783=
NM_080630.4:c.1999G= NP_542197.3:p.Asp667=
NR_134980.2:n.2691G=
NM_001190709.2:c.2230G= NP_001177638.1:p.Asp744=
NM_080629.3:c.2383G= NP_542196.2:p.Asp795=