Canonical Allele Identifier: CA341175433

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103008470C>T , CM000663.2:g.103008470C>T	GRCh38
NC_000001.10:g.103474026C>T , CM000663.1:g.103474026C>T	GRCh37
NC_000001.9:g.103246614C>T	NCBI36
NG_008033.1:g.105027G>A
NG_008033.2:g.105027G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.1676G>A MANE Select	NP_001845.3:p.Gly559Asp
ENST00000370096.9:c.1676G>A MANE Select	ENSP00000359114.3:p.Gly559Asp
NM_001190709.1:c.1559G>A	NP_001177638.1:p.Gly520Asp
NM_001190709.2:c.1559G>A	NP_001177638.1:p.Gly520Asp
NM_001854.3:c.1676G>A	NP_001845.3:p.Gly559Asp
NM_080629.2:c.1712G>A	NP_542196.2:p.Gly571Asp
NM_080629.3:c.1712G>A	NP_542196.2:p.Gly571Asp
NM_080630.3:c.1328G>A	NP_542197.3:p.Gly443Asp
NM_080630.4:c.1328G>A	NP_542197.3:p.Gly443Asp
NR_134980.1:n.1994G>A
NR_134980.2:n.2020G>A
ENST00000353414.8:c.1559G>A	ENSP00000302551.6:p.Gly520Asp
ENST00000358392.6:c.1712G>A	ENSP00000351163.2:p.Gly571Asp
ENST00000370096.7:c.1676G>A	ENSP00000359114.3:p.Gly559Asp
ENST00000461720.5:n.24G>A
ENST00000461720.6:c.1829G>A	ENSP00000494909.1:p.Gly610Asp
ENST00000512756.5:c.1328G>A	ENSP00000426533.1:p.Gly443Asp
ENST00000635193.1:c.994G>A
ENST00000644186.1:c.1676G>A	ENSP00000493821.1:p.Gly559Asp
ENST00000645458.1:c.1676G>A	ENSP00000494179.1:p.Gly559Asp
ENST00000647280.1:c.1676G>A	ENSP00000494583.1:p.Gly559Asp
XM_011540719.1:c.1676G>A	XP_011539021.1:p.Gly559Asp
XM_011540720.1:c.-85+206G>A	XP_011539022.1:n.-85+206G>A
XM_011540721.1:c.-753G>A	XP_011539023.1:n.-753G>A
XM_017000334.1:c.1829G>A	XP_016855823.1:p.Gly610Asp
XM_017000335.1:c.1823G>A	XP_016855824.1:p.Gly608Asp
XM_017000336.1:c.1829G>A	XP_016855825.1:p.Gly610Asp
XM_017000337.1:c.227G>A	XP_016855826.1:p.Gly76Asp
XR_946545.1:n.2074G>A