Canonical Allele Identifier: CA341154439

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103022819C>A , CM000663.2:g.103022819C>A	GRCh38
NC_000001.10:g.103488375C>A , CM000663.1:g.103488375C>A	GRCh37
NC_000001.9:g.103260963C>A	NCBI36
NG_008033.1:g.90678G>T
NG_008033.2:g.90678G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.1168G>T MANE Select	NP_001845.3:p.Glu390Ter
ENST00000370096.9:c.1168G>T MANE Select	ENSP00000359114.3:p.Glu390Ter
NM_001190709.1:c.1051G>T	NP_001177638.1:p.Glu351Ter
NM_001190709.2:c.1051G>T	NP_001177638.1:p.Glu351Ter
NM_001854.3:c.1168G>T	NP_001845.3:p.Glu390Ter
NM_080629.2:c.1204G>T	NP_542196.2:p.Glu402Ter
NM_080629.3:c.1204G>T	NP_542196.2:p.Glu402Ter
NM_080630.3:c.898-1050G>T	NP_542197.3:n.898-1050G>T
NM_080630.4:c.898-1050G>T	NP_542197.3:n.898-1050G>T
NR_134980.1:n.1486G>T
NR_134980.2:n.1512G>T
ENST00000353414.8:c.1051G>T	ENSP00000302551.6:p.Glu351Ter
ENST00000358392.6:c.1204G>T	ENSP00000351163.2:p.Glu402Ter
ENST00000370096.7:c.1168G>T	ENSP00000359114.3:p.Glu390Ter
ENST00000427239.5:c.1204G>T	ENSP00000408640.1:p.Glu402Ter
ENST00000461720.6:c.1321G>T	ENSP00000494909.1:p.Glu441Ter
ENST00000512756.5:c.898-1050G>T	ENSP00000426533.1:n.898-1050G>T
ENST00000635193.1:c.486G>T
ENST00000644186.1:c.1168G>T	ENSP00000493821.1:p.Glu390Ter
ENST00000645458.1:c.1168G>T	ENSP00000494179.1:p.Glu390Ter
ENST00000647280.1:c.1168G>T	ENSP00000494583.1:p.Glu390Ter
XM_011540719.1:c.1168G>T	XP_011539021.1:p.Glu390Ter
XM_011540721.1:c.-1261G>T	XP_011539023.1:n.-1261G>T
XM_017000334.1:c.1321G>T	XP_016855823.1:p.Glu441Ter
XM_017000335.1:c.1315G>T	XP_016855824.1:p.Glu439Ter
XM_017000336.1:c.1321G>T	XP_016855825.1:p.Glu441Ter
XM_017000337.1:c.-328G>T	XP_016855826.1:n.-328G>T
XR_946545.1:n.1566G>T