Canonical Allele Identifier: CA973696

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102912161G>A , CM000663.2:g.102912161G>A	GRCh38
NC_000001.10:g.103377717G>A , CM000663.1:g.103377717G>A	GRCh37
NC_000001.9:g.103150305G>A	NCBI36
NG_008033.1:g.201336C>T
NG_008033.2:g.201336C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.4084C>T MANE Select	NP_001845.3:p.Arg1362Ter
ENST00000370096.9:c.4084C>T MANE Select	ENSP00000359114.3:p.Arg1362Ter
NM_001190709.1:c.3967C>T	NP_001177638.1:p.Arg1323Ter
NM_001190709.2:c.3967C>T	NP_001177638.1:p.Arg1323Ter
NM_001854.3:c.4084C>T	NP_001845.3:p.Arg1362Ter
NM_080629.2:c.4120C>T	NP_542196.2:p.Arg1374Ter
NM_080629.3:c.4120C>T	NP_542196.2:p.Arg1374Ter
NM_080630.3:c.3736C>T	NP_542197.3:p.Arg1246Ter
NM_080630.4:c.3736C>T	NP_542197.3:p.Arg1246Ter
NR_134980.1:n.4418C>T
NR_134980.2:n.4444C>T
ENST00000353414.8:c.3967C>T	ENSP00000302551.6:p.Arg1323Ter
ENST00000358392.6:c.4120C>T	ENSP00000351163.2:p.Arg1374Ter
ENST00000370096.7:c.4084C>T	ENSP00000359114.3:p.Arg1362Ter
ENST00000512756.5:c.3736C>T	ENSP00000426533.1:p.Arg1246Ter
ENST00000635193.1:c.3418C>T
XM_011540719.1:c.4084C>T	XP_011539021.1:p.Arg1362Ter
XM_011540720.1:c.2317C>T	XP_011539022.1:p.Arg773Ter
XM_011540721.1:c.1672C>T	XP_011539023.1:p.Arg558Ter
XM_017000334.1:c.4237C>T	XP_016855823.1:p.Arg1413Ter
XM_017000335.1:c.4231C>T	XP_016855824.1:p.Arg1411Ter
XM_017000336.1:c.4237C>T	XP_016855825.1:p.Arg1413Ter
XM_017000337.1:c.2635C>T	XP_016855826.1:p.Arg879Ter