Canonical Allele Identifier: CA341175531
Gene: COL11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.103008492T>G , CM000663.2:g.103008492T>G GRCh38
NC_000001.10:g.103474048T>G , CM000663.1:g.103474048T>G GRCh37
NC_000001.9:g.103246636T>G NCBI36
NG_008033.1:g.105005A>C
NG_008033.2:g.105005A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.1654A>C MANE Select ENSP00000359114.3:p.Lys552Gln
ENST00000461720.6:c.1807A>C ENSP00000494909.1:p.Lys603Gln
ENST00000644186.1:c.1654A>C ENSP00000493821.1:p.Lys552Gln
ENST00000645458.1:c.1654A>C ENSP00000494179.1:p.Lys552Gln
ENST00000647280.1:c.1654A>C ENSP00000494583.1:p.Lys552Gln
ENST00000353414.8:c.1537A>C ENSP00000302551.6:p.Lys513Gln
ENST00000358392.6:c.1690A>C ENSP00000351163.2:p.Lys564Gln
ENST00000370096.7:c.1654A>C ENSP00000359114.3:p.Lys552Gln
ENST00000427239.5:c.1690A>C ENSP00000408640.1:p.Lys564Gln
ENST00000461720.5:n.2A>C
ENST00000512756.5:c.1306A>C ENSP00000426533.1:p.Lys436Gln
ENST00000635193.1:c.972A>C
NM_001190709.1:c.1537A>C NP_001177638.1:p.Lys513Gln
NM_001854.3:c.1654A>C NP_001845.3:p.Lys552Gln
NM_080629.2:c.1690A>C NP_542196.2:p.Lys564Gln
NM_080630.3:c.1306A>C NP_542197.3:p.Lys436Gln
XM_011540719.1:c.1654A>C XP_011539021.1:p.Lys552Gln
XM_011540720.1:c.-85+184A>C XP_011539022.1:n.-85+184A>C
XM_011540721.1:c.-775A>C XP_011539023.1:n.-775A>C
XR_946545.1:n.2052A>C
NR_134980.1:n.1972A>C
XM_017000334.1:c.1807A>C XP_016855823.1:p.Lys603Gln
XM_017000335.1:c.1801A>C XP_016855824.1:p.Lys601Gln
XM_017000336.1:c.1807A>C XP_016855825.1:p.Lys603Gln
XM_017000337.1:c.205A>C XP_016855826.1:p.Lys69Gln
NM_001854.4:c.1654A>C MANE Select NP_001845.3:p.Lys552Gln
NM_080630.4:c.1306A>C NP_542197.3:p.Lys436Gln
NR_134980.2:n.1998A>C
NM_001190709.2:c.1537A>C NP_001177638.1:p.Lys513Gln
NM_080629.3:c.1690A>C NP_542196.2:p.Lys564Gln