Canonical Allele Identifier: CA341155535

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025555G>T , CM000663.2:g.103025555G>T	GRCh38
NC_000001.10:g.103491111G>T , CM000663.1:g.103491111G>T	GRCh37
NC_000001.9:g.103263699G>T	NCBI36
NG_008033.1:g.87942C>A
NG_008033.2:g.87942C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.956C>A MANE Select	NP_001845.3:p.Thr319Lys
ENST00000370096.9:c.956C>A MANE Select	ENSP00000359114.3:p.Thr319Lys
NM_001190709.1:c.839C>A	NP_001177638.1:p.Thr280Lys
NM_001190709.2:c.839C>A	NP_001177638.1:p.Thr280Lys
NM_001854.3:c.956C>A	NP_001845.3:p.Thr319Lys
NM_080629.2:c.992C>A	NP_542196.2:p.Thr331Lys
NM_080629.3:c.992C>A	NP_542196.2:p.Thr331Lys
NM_080630.3:c.897+661C>A	NP_542197.3:n.897+661C>A
NM_080630.4:c.897+661C>A	NP_542197.3:n.897+661C>A
NR_134980.1:n.1274C>A
NR_134980.2:n.1300C>A
ENST00000353414.8:c.839C>A	ENSP00000302551.6:p.Thr280Lys
ENST00000358392.6:c.992C>A	ENSP00000351163.2:p.Thr331Lys
ENST00000370096.7:c.956C>A	ENSP00000359114.3:p.Thr319Lys
ENST00000427239.5:c.992C>A	ENSP00000408640.1:p.Thr331Lys
ENST00000461720.6:c.1109C>A	ENSP00000494909.1:p.Thr370Lys
ENST00000512756.5:c.897+661C>A	ENSP00000426533.1:n.897+661C>A
ENST00000635193.1:c.274C>A
ENST00000644186.1:c.956C>A	ENSP00000493821.1:p.Thr319Lys
ENST00000645458.1:c.956C>A	ENSP00000494179.1:p.Thr319Lys
ENST00000647280.1:c.956C>A	ENSP00000494583.1:p.Thr319Lys
XM_011540719.1:c.956C>A	XP_011539021.1:p.Thr319Lys
XM_011540721.1:c.-1473C>A	XP_011539023.1:n.-1473C>A
XM_017000334.1:c.1109C>A	XP_016855823.1:p.Thr370Lys
XM_017000335.1:c.1103C>A	XP_016855824.1:p.Thr368Lys
XM_017000336.1:c.1109C>A	XP_016855825.1:p.Thr370Lys
XR_946545.1:n.1354C>A