Canonical Allele Identifier: CA341155532

Gene: COL11A1

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.956C>T MANE Select	NP_001845.3:p.Thr319Ile
ENST00000370096.9:c.956C>T MANE Select	ENSP00000359114.3:p.Thr319Ile
NM_001190709.1:c.839C>T	NP_001177638.1:p.Thr280Ile
NM_001190709.2:c.839C>T	NP_001177638.1:p.Thr280Ile
NM_001854.3:c.956C>T	NP_001845.3:p.Thr319Ile
NM_080629.2:c.992C>T	NP_542196.2:p.Thr331Ile
NM_080629.3:c.992C>T	NP_542196.2:p.Thr331Ile
NM_080630.3:c.897+661C>T	NP_542197.3:n.897+661C>T
NM_080630.4:c.897+661C>T	NP_542197.3:n.897+661C>T
NR_134980.1:n.1274C>T
NR_134980.2:n.1300C>T
ENST00000353414.8:c.839C>T	ENSP00000302551.6:p.Thr280Ile
ENST00000358392.6:c.992C>T	ENSP00000351163.2:p.Thr331Ile
ENST00000370096.7:c.956C>T	ENSP00000359114.3:p.Thr319Ile
ENST00000427239.5:c.992C>T	ENSP00000408640.1:p.Thr331Ile
ENST00000461720.6:c.1109C>T	ENSP00000494909.1:p.Thr370Ile
ENST00000512756.5:c.897+661C>T	ENSP00000426533.1:n.897+661C>T
ENST00000635193.1:c.274C>T
ENST00000644186.1:c.956C>T	ENSP00000493821.1:p.Thr319Ile
ENST00000645458.1:c.956C>T	ENSP00000494179.1:p.Thr319Ile
ENST00000647280.1:c.956C>T	ENSP00000494583.1:p.Thr319Ile
XM_011540719.1:c.956C>T	XP_011539021.1:p.Thr319Ile
XM_011540721.1:c.-1473C>T	XP_011539023.1:n.-1473C>T
XM_017000334.1:c.1109C>T	XP_016855823.1:p.Thr370Ile
XM_017000335.1:c.1103C>T	XP_016855824.1:p.Thr368Ile
XM_017000336.1:c.1109C>T	XP_016855825.1:p.Thr370Ile
XR_946545.1:n.1354C>T