Canonical Allele Identifier: CA27712465

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025557C>T , CM000663.2:g.103025557C>T	GRCh38
NC_000001.10:g.103491113C>T , CM000663.1:g.103491113C>T	GRCh37
NC_000001.9:g.103263701C>T	NCBI36
NG_008033.1:g.87940G>A
NG_008033.2:g.87940G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.954G>A MANE Select	NP_001845.3:p.Gln318=
ENST00000370096.9:c.954G>A MANE Select	ENSP00000359114.3:p.Gln318=
NM_001190709.1:c.837G>A	NP_001177638.1:p.Gln279=
NM_001190709.2:c.837G>A	NP_001177638.1:p.Gln279=
NM_001854.3:c.954G>A	NP_001845.3:p.Gln318=
NM_080629.2:c.990G>A	NP_542196.2:p.Gln330=
NM_080629.3:c.990G>A	NP_542196.2:p.Gln330=
NM_080630.3:c.897+659G>A	NP_542197.3:n.897+659G>A
NM_080630.4:c.897+659G>A	NP_542197.3:n.897+659G>A
NR_134980.1:n.1272G>A
NR_134980.2:n.1298G>A
ENST00000353414.8:c.837G>A	ENSP00000302551.6:p.Gln279=
ENST00000358392.6:c.990G>A	ENSP00000351163.2:p.Gln330=
ENST00000370096.7:c.954G>A	ENSP00000359114.3:p.Gln318=
ENST00000427239.5:c.990G>A	ENSP00000408640.1:p.Gln330=
ENST00000461720.6:c.1107G>A	ENSP00000494909.1:p.Gln369=
ENST00000512756.5:c.897+659G>A	ENSP00000426533.1:n.897+659G>A
ENST00000635193.1:c.272G>A
ENST00000644186.1:c.954G>A	ENSP00000493821.1:p.Gln318=
ENST00000645458.1:c.954G>A	ENSP00000494179.1:p.Gln318=
ENST00000647280.1:c.954G>A	ENSP00000494583.1:p.Gln318=
XM_011540719.1:c.954G>A	XP_011539021.1:p.Gln318=
XM_011540721.1:c.-1475G>A	XP_011539023.1:n.-1475G>A
XM_017000334.1:c.1107G>A	XP_016855823.1:p.Gln369=
XM_017000335.1:c.1101G>A	XP_016855824.1:p.Gln367=
XM_017000336.1:c.1107G>A	XP_016855825.1:p.Gln369=
XR_946545.1:n.1352G>A