Canonical Allele Identifier: CA341155554

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025561T>C , CM000663.2:g.103025561T>C	GRCh38
NC_000001.10:g.103491117T>C , CM000663.1:g.103491117T>C	GRCh37
NC_000001.9:g.103263705T>C	NCBI36
NG_008033.1:g.87936A>G
NG_008033.2:g.87936A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.950A>G MANE Select	NP_001845.3:p.Tyr317Cys
ENST00000370096.9:c.950A>G MANE Select	ENSP00000359114.3:p.Tyr317Cys
NM_001190709.1:c.833A>G	NP_001177638.1:p.Tyr278Cys
NM_001190709.2:c.833A>G	NP_001177638.1:p.Tyr278Cys
NM_001854.3:c.950A>G	NP_001845.3:p.Tyr317Cys
NM_080629.2:c.986A>G	NP_542196.2:p.Tyr329Cys
NM_080629.3:c.986A>G	NP_542196.2:p.Tyr329Cys
NM_080630.3:c.897+655A>G	NP_542197.3:n.897+655A>G
NM_080630.4:c.897+655A>G	NP_542197.3:n.897+655A>G
NR_134980.1:n.1268A>G
NR_134980.2:n.1294A>G
ENST00000353414.8:c.833A>G	ENSP00000302551.6:p.Tyr278Cys
ENST00000358392.6:c.986A>G	ENSP00000351163.2:p.Tyr329Cys
ENST00000370096.7:c.950A>G	ENSP00000359114.3:p.Tyr317Cys
ENST00000427239.5:c.986A>G	ENSP00000408640.1:p.Tyr329Cys
ENST00000461720.6:c.1103A>G	ENSP00000494909.1:p.Tyr368Cys
ENST00000512756.5:c.897+655A>G	ENSP00000426533.1:n.897+655A>G
ENST00000635193.1:c.268A>G
ENST00000644186.1:c.950A>G	ENSP00000493821.1:p.Tyr317Cys
ENST00000645458.1:c.950A>G	ENSP00000494179.1:p.Tyr317Cys
ENST00000647280.1:c.950A>G	ENSP00000494583.1:p.Tyr317Cys
XM_011540719.1:c.950A>G	XP_011539021.1:p.Tyr317Cys
XM_011540721.1:c.-1479A>G	XP_011539023.1:n.-1479A>G
XM_017000334.1:c.1103A>G	XP_016855823.1:p.Tyr368Cys
XM_017000335.1:c.1097A>G	XP_016855824.1:p.Tyr366Cys
XM_017000336.1:c.1103A>G	XP_016855825.1:p.Tyr368Cys
XR_946545.1:n.1348A>G