Canonical Allele Identifier: CA341155637

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025589C>A , CM000663.2:g.103025589C>A	GRCh38
NC_000001.10:g.103491145C>A , CM000663.1:g.103491145C>A	GRCh37
NC_000001.9:g.103263733C>A	NCBI36
NG_008033.1:g.87908G>T
NG_008033.2:g.87908G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.922G>T MANE Select	NP_001845.3:p.Glu308Ter
ENST00000370096.9:c.922G>T MANE Select	ENSP00000359114.3:p.Glu308Ter
NM_001190709.1:c.805G>T	NP_001177638.1:p.Glu269Ter
NM_001190709.2:c.805G>T	NP_001177638.1:p.Glu269Ter
NM_001854.3:c.922G>T	NP_001845.3:p.Glu308Ter
NM_080629.2:c.958G>T	NP_542196.2:p.Glu320Ter
NM_080629.3:c.958G>T	NP_542196.2:p.Glu320Ter
NM_080630.3:c.897+627G>T	NP_542197.3:n.897+627G>T
NM_080630.4:c.897+627G>T	NP_542197.3:n.897+627G>T
NR_134980.1:n.1240G>T
NR_134980.2:n.1266G>T
ENST00000353414.8:c.805G>T	ENSP00000302551.6:p.Glu269Ter
ENST00000358392.6:c.958G>T	ENSP00000351163.2:p.Glu320Ter
ENST00000370096.7:c.922G>T	ENSP00000359114.3:p.Glu308Ter
ENST00000427239.5:c.958G>T	ENSP00000408640.1:p.Glu320Ter
ENST00000461720.6:c.1075G>T	ENSP00000494909.1:p.Glu359Ter
ENST00000512756.5:c.897+627G>T	ENSP00000426533.1:n.897+627G>T
ENST00000635193.1:c.240G>T
ENST00000644186.1:c.922G>T	ENSP00000493821.1:p.Glu308Ter
ENST00000645458.1:c.922G>T	ENSP00000494179.1:p.Glu308Ter
ENST00000647280.1:c.922G>T	ENSP00000494583.1:p.Glu308Ter
XM_011540719.1:c.922G>T	XP_011539021.1:p.Glu308Ter
XM_011540721.1:c.-1507G>T	XP_011539023.1:n.-1507G>T
XM_017000334.1:c.1075G>T	XP_016855823.1:p.Glu359Ter
XM_017000335.1:c.1069G>T	XP_016855824.1:p.Glu357Ter
XM_017000336.1:c.1075G>T	XP_016855825.1:p.Glu359Ter
XR_946545.1:n.1320G>T