Canonical Allele Identifier: CA341163198

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978867C>T , CM000663.2:g.102978867C>T	GRCh38
NC_000001.10:g.103444423C>T , CM000663.1:g.103444423C>T	GRCh37
NC_000001.9:g.103217011C>T	NCBI36
NG_008033.1:g.134630G>A
NG_008033.2:g.134630G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.2702G>A MANE Select	NP_001845.3:p.Gly901Glu
ENST00000370096.9:c.2702G>A MANE Select	ENSP00000359114.3:p.Gly901Glu
NM_001190709.1:c.2585G>A	NP_001177638.1:p.Gly862Glu
NM_001190709.2:c.2585G>A	NP_001177638.1:p.Gly862Glu
NM_001854.3:c.2702G>A	NP_001845.3:p.Gly901Glu
NM_080629.2:c.2738G>A	NP_542196.2:p.Gly913Glu
NM_080629.3:c.2738G>A	NP_542196.2:p.Gly913Glu
NM_080630.3:c.2354G>A	NP_542197.3:p.Gly785Glu
NM_080630.4:c.2354G>A	NP_542197.3:p.Gly785Glu
NR_134980.1:n.3036G>A
NR_134980.2:n.3062G>A
ENST00000353414.8:c.2585G>A	ENSP00000302551.6:p.Gly862Glu
ENST00000358392.6:c.2738G>A	ENSP00000351163.2:p.Gly913Glu
ENST00000370096.7:c.2702G>A	ENSP00000359114.3:p.Gly901Glu
ENST00000512756.5:c.2354G>A	ENSP00000426533.1:p.Gly785Glu
ENST00000635193.1:c.2036G>A
XM_011540719.1:c.2702G>A	XP_011539021.1:p.Gly901Glu
XM_011540720.1:c.935G>A	XP_011539022.1:p.Gly312Glu
XM_011540721.1:c.290G>A	XP_011539023.1:p.Gly97Glu
XM_017000334.1:c.2855G>A	XP_016855823.1:p.Gly952Glu
XM_017000335.1:c.2849G>A	XP_016855824.1:p.Gly950Glu
XM_017000336.1:c.2855G>A	XP_016855825.1:p.Gly952Glu
XM_017000337.1:c.1253G>A	XP_016855826.1:p.Gly418Glu
XR_946545.1:n.3116G>A