Canonical Allele Identifier: CA341170152

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102998317C>T , CM000663.2:g.102998317C>T	GRCh38
NC_000001.10:g.103463873C>T , CM000663.1:g.103463873C>T	GRCh37
NC_000001.9:g.103236461C>T	NCBI36
NG_008033.1:g.115180G>A
NG_008033.2:g.115180G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.2189G>A MANE Select	NP_001845.3:p.Gly730Glu
ENST00000370096.9:c.2189G>A MANE Select	ENSP00000359114.3:p.Gly730Glu
NM_001190709.1:c.2072G>A	NP_001177638.1:p.Gly691Glu
NM_001190709.2:c.2072G>A	NP_001177638.1:p.Gly691Glu
NM_001854.3:c.2189G>A	NP_001845.3:p.Gly730Glu
NM_080629.2:c.2225G>A	NP_542196.2:p.Gly742Glu
NM_080629.3:c.2225G>A	NP_542196.2:p.Gly742Glu
NM_080630.3:c.1841G>A	NP_542197.3:p.Gly614Glu
NM_080630.4:c.1841G>A	NP_542197.3:p.Gly614Glu
NR_134980.1:n.2507G>A
NR_134980.2:n.2533G>A
ENST00000353414.8:c.2072G>A	ENSP00000302551.6:p.Gly691Glu
ENST00000358392.6:c.2225G>A	ENSP00000351163.2:p.Gly742Glu
ENST00000370096.7:c.2189G>A	ENSP00000359114.3:p.Gly730Glu
ENST00000512756.5:c.1841G>A	ENSP00000426533.1:p.Gly614Glu
ENST00000635193.1:c.1507G>A
XM_011540719.1:c.2189G>A	XP_011539021.1:p.Gly730Glu
XM_011540720.1:c.422G>A	XP_011539022.1:p.Gly141Glu
XM_011540721.1:c.-240G>A	XP_011539023.1:n.-240G>A
XM_017000334.1:c.2342G>A	XP_016855823.1:p.Gly781Glu
XM_017000335.1:c.2336G>A	XP_016855824.1:p.Gly779Glu
XM_017000336.1:c.2342G>A	XP_016855825.1:p.Gly781Glu
XM_017000337.1:c.740G>A	XP_016855826.1:p.Gly247Glu
XR_946545.1:n.2587G>A