Canonical Allele Identifier: CA975054

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103021752T>C , CM000663.2:g.103021752T>C	GRCh38
NC_000001.10:g.103487308T>C , CM000663.1:g.103487308T>C	GRCh37
NC_000001.9:g.103259896T>C	NCBI36
NG_008033.1:g.91745A>G
NG_008033.2:g.91745A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.1263A>G MANE Select	NP_001845.3:p.Ala421=
ENST00000370096.9:c.1263A>G MANE Select	ENSP00000359114.3:p.Ala421=
NM_001190709.1:c.1146A>G	NP_001177638.1:p.Ala382=
NM_001190709.2:c.1146A>G	NP_001177638.1:p.Ala382=
NM_001854.3:c.1263A>G	NP_001845.3:p.Ala421=
NM_080629.2:c.1299A>G	NP_542196.2:p.Ala433=
NM_080629.3:c.1299A>G	NP_542196.2:p.Ala433=
NM_080630.3:c.915A>G	NP_542197.3:p.Ala305=
NM_080630.4:c.915A>G	NP_542197.3:p.Ala305=
NR_134980.1:n.1581A>G
NR_134980.2:n.1607A>G
ENST00000353414.8:c.1146A>G	ENSP00000302551.6:p.Ala382=
ENST00000358392.6:c.1299A>G	ENSP00000351163.2:p.Ala433=
ENST00000370096.7:c.1263A>G	ENSP00000359114.3:p.Ala421=
ENST00000427239.5:c.1299A>G	ENSP00000408640.1:p.Ala433=
ENST00000461720.6:c.1416A>G	ENSP00000494909.1:p.Ala472=
ENST00000512756.5:c.915A>G	ENSP00000426533.1:p.Ala305=
ENST00000635193.1:c.581A>G
ENST00000644186.1:c.1263A>G	ENSP00000493821.1:p.Ala421=
ENST00000645458.1:c.1263A>G	ENSP00000494179.1:p.Ala421=
ENST00000647280.1:c.1263A>G	ENSP00000494583.1:p.Ala421=
XM_011540719.1:c.1263A>G	XP_011539021.1:p.Ala421=
XM_011540721.1:c.-1166A>G	XP_011539023.1:n.-1166A>G
XM_017000334.1:c.1416A>G	XP_016855823.1:p.Ala472=
XM_017000335.1:c.1410A>G	XP_016855824.1:p.Ala470=
XM_017000336.1:c.1416A>G	XP_016855825.1:p.Ala472=
XM_017000337.1:c.-233A>G	XP_016855826.1:n.-233A>G
XR_946545.1:n.1661A>G