Canonical Allele Identifier: CA341160212

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102912193C>A , CM000663.2:g.102912193C>A	GRCh38
NC_000001.10:g.103377749C>A , CM000663.1:g.103377749C>A	GRCh37
NC_000001.9:g.103150337C>A	NCBI36
NG_008033.1:g.201304G>T
NG_008033.2:g.201304G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.4052G>T MANE Select	NP_001845.3:p.Gly1351Val
ENST00000370096.9:c.4052G>T MANE Select	ENSP00000359114.3:p.Gly1351Val
NM_001190709.1:c.3935G>T	NP_001177638.1:p.Gly1312Val
NM_001190709.2:c.3935G>T	NP_001177638.1:p.Gly1312Val
NM_001854.3:c.4052G>T	NP_001845.3:p.Gly1351Val
NM_080629.2:c.4088G>T	NP_542196.2:p.Gly1363Val
NM_080629.3:c.4088G>T	NP_542196.2:p.Gly1363Val
NM_080630.3:c.3704G>T	NP_542197.3:p.Gly1235Val
NM_080630.4:c.3704G>T	NP_542197.3:p.Gly1235Val
NR_134980.1:n.4386G>T
NR_134980.2:n.4412G>T
ENST00000353414.8:c.3935G>T	ENSP00000302551.6:p.Gly1312Val
ENST00000358392.6:c.4088G>T	ENSP00000351163.2:p.Gly1363Val
ENST00000370096.7:c.4052G>T	ENSP00000359114.3:p.Gly1351Val
ENST00000512756.5:c.3704G>T	ENSP00000426533.1:p.Gly1235Val
ENST00000635193.1:c.3386G>T
XM_011540719.1:c.4052G>T	XP_011539021.1:p.Gly1351Val
XM_011540720.1:c.2285G>T	XP_011539022.1:p.Gly762Val
XM_011540721.1:c.1640G>T	XP_011539023.1:p.Gly547Val
XM_017000334.1:c.4205G>T	XP_016855823.1:p.Gly1402Val
XM_017000335.1:c.4199G>T	XP_016855824.1:p.Gly1400Val
XM_017000336.1:c.4205G>T	XP_016855825.1:p.Gly1402Val
XM_017000337.1:c.2603G>T	XP_016855826.1:p.Gly868Val