Canonical Allele Identifier: CA973288

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102879734C>G , CM000663.2:g.102879734C>G	GRCh38
NC_000001.10:g.103345290C>G , CM000663.1:g.103345290C>G	GRCh37
NC_000001.9:g.103117878C>G	NCBI36
NG_008033.1:g.233763G>C
NG_008033.2:g.233763G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.5223G>C MANE Select	NP_001845.3:p.Glu1741Asp
ENST00000370096.9:c.5223G>C MANE Select	ENSP00000359114.3:p.Glu1741Asp
NM_001190709.1:c.5106G>C	NP_001177638.1:p.Glu1702Asp
NM_001190709.2:c.5106G>C	NP_001177638.1:p.Glu1702Asp
NM_001854.3:c.5223G>C	NP_001845.3:p.Glu1741Asp
NM_080629.2:c.5259G>C	NP_542196.2:p.Glu1753Asp
NM_080629.3:c.5259G>C	NP_542196.2:p.Glu1753Asp
NM_080630.3:c.4875G>C	NP_542197.3:p.Glu1625Asp
NM_080630.4:c.4875G>C	NP_542197.3:p.Glu1625Asp
NR_134980.1:n.5557G>C
NR_134980.2:n.5583G>C
ENST00000353414.8:c.5106G>C	ENSP00000302551.6:p.Glu1702Asp
ENST00000358392.6:c.5259G>C	ENSP00000351163.2:p.Glu1753Asp
ENST00000370096.7:c.5223G>C	ENSP00000359114.3:p.Glu1741Asp
ENST00000470170.1:n.285G>C
ENST00000512756.5:c.4875G>C	ENSP00000426533.1:p.Glu1625Asp
ENST00000635193.1:c.4557G>C
ENST00000639098.1:n.596G>C
XM_011540720.1:c.3456G>C	XP_011539022.1:p.Glu1152Asp
XM_011540721.1:c.2811G>C	XP_011539023.1:p.Glu937Asp
XM_017000334.1:c.5376G>C	XP_016855823.1:p.Glu1792Asp
XM_017000335.1:c.5370G>C	XP_016855824.1:p.Glu1790Asp
XM_017000337.1:c.3774G>C	XP_016855826.1:p.Glu1258Asp