Canonical Allele Identifier: CA974505

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102995999C>T , CM000663.2:g.102995999C>T	GRCh38
NC_000001.10:g.103461555C>T , CM000663.1:g.103461555C>T	GRCh37
NC_000001.9:g.103234143C>T	NCBI36
NG_008033.1:g.117498G>A
NG_008033.2:g.117498G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.2285G>A MANE Select	NP_001845.3:p.Arg762Gln
ENST00000370096.9:c.2285G>A MANE Select	ENSP00000359114.3:p.Arg762Gln
NM_001190709.1:c.2168G>A	NP_001177638.1:p.Arg723Gln
NM_001190709.2:c.2168G>A	NP_001177638.1:p.Arg723Gln
NM_001854.3:c.2285G>A	NP_001845.3:p.Arg762Gln
NM_080629.2:c.2321G>A	NP_542196.2:p.Arg774Gln
NM_080629.3:c.2321G>A	NP_542196.2:p.Arg774Gln
NM_080630.3:c.1937G>A	NP_542197.3:p.Arg646Gln
NM_080630.4:c.1937G>A	NP_542197.3:p.Arg646Gln
NR_134980.1:n.2603G>A
NR_134980.2:n.2629G>A
ENST00000353414.8:c.2168G>A	ENSP00000302551.6:p.Arg723Gln
ENST00000358392.6:c.2321G>A	ENSP00000351163.2:p.Arg774Gln
ENST00000370096.7:c.2285G>A	ENSP00000359114.3:p.Arg762Gln
ENST00000512756.5:c.1937G>A	ENSP00000426533.1:p.Arg646Gln
ENST00000635193.1:c.1603G>A
XM_011540719.1:c.2285G>A	XP_011539021.1:p.Arg762Gln
XM_011540720.1:c.518G>A	XP_011539022.1:p.Arg173Gln
XM_011540721.1:c.-144G>A	XP_011539023.1:n.-144G>A
XM_017000334.1:c.2438G>A	XP_016855823.1:p.Arg813Gln
XM_017000335.1:c.2432G>A	XP_016855824.1:p.Arg811Gln
XM_017000336.1:c.2438G>A	XP_016855825.1:p.Arg813Gln
XM_017000337.1:c.836G>A	XP_016855826.1:p.Arg279Gln
XR_946545.1:n.2683G>A