Canonical Allele Identifier: CA341210452

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102878054C>G , CM000663.2:g.102878054C>G	GRCh38
NC_000001.10:g.103343610C>G , CM000663.1:g.103343610C>G	GRCh37
NC_000001.9:g.103116198C>G	NCBI36
NG_008033.1:g.235443G>C
NG_008033.2:g.235443G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.5386G>C MANE Select	NP_001845.3:p.Gly1796Arg
ENST00000370096.9:c.5386G>C MANE Select	ENSP00000359114.3:p.Gly1796Arg
NM_001190709.1:c.5269G>C	NP_001177638.1:p.Gly1757Arg
NM_001190709.2:c.5269G>C	NP_001177638.1:p.Gly1757Arg
NM_001854.3:c.5386G>C	NP_001845.3:p.Gly1796Arg
NM_080629.2:c.5422G>C	NP_542196.2:p.Gly1808Arg
NM_080629.3:c.5422G>C	NP_542196.2:p.Gly1808Arg
NM_080630.3:c.5038G>C	NP_542197.3:p.Gly1680Arg
NM_080630.4:c.5038G>C	NP_542197.3:p.Gly1680Arg
NR_134980.1:n.5720G>C
NR_134980.2:n.5746G>C
ENST00000353414.8:c.5269G>C	ENSP00000302551.6:p.Gly1757Arg
ENST00000358392.6:c.5422G>C	ENSP00000351163.2:p.Gly1808Arg
ENST00000370096.7:c.5386G>C	ENSP00000359114.3:p.Gly1796Arg
ENST00000470170.1:n.448G>C
ENST00000512756.5:c.5038G>C	ENSP00000426533.1:p.Gly1680Arg
ENST00000635193.1:c.4720G>C
ENST00000639098.1:n.759G>C
XM_011540720.1:c.3619G>C	XP_011539022.1:p.Gly1207Arg
XM_011540721.1:c.2974G>C	XP_011539023.1:p.Gly992Arg
XM_017000334.1:c.5539G>C	XP_016855823.1:p.Gly1847Arg
XM_017000335.1:c.5533G>C	XP_016855824.1:p.Gly1845Arg
XM_017000337.1:c.3937G>C	XP_016855826.1:p.Gly1313Arg