Canonical Allele Identifier: CA341161340

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 2505017
• ClinVar RCV Id: RCV003233197
• dbSNP Id: rs2101032511
• MyVariant Identifiers: chr1:g.103380295C>T (hg19) ; chr1:g.102914739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914739C>T , CM000663.2:g.102914739C>T	GRCh38
NC_000001.10:g.103380295C>T , CM000663.1:g.103380295C>T	GRCh37
NC_000001.9:g.103152883C>T	NCBI36
NG_008033.1:g.198758G>A
NG_008033.2:g.198758G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3889G>A MANE Select	ENSP00000359114.3:p.Gly1297Arg
ENST00000353414.8:c.3772G>A	ENSP00000302551.6:p.Gly1258Arg
ENST00000358392.6:c.3925G>A	ENSP00000351163.2:p.Gly1309Arg
ENST00000370096.7:c.3889G>A	ENSP00000359114.3:p.Gly1297Arg
ENST00000512756.5:c.3541G>A	ENSP00000426533.1:p.Gly1181Arg
ENST00000635193.1:c.3223G>A
NM_001190709.1:c.3772G>A	NP_001177638.1:p.Gly1258Arg
NM_001854.3:c.3889G>A	NP_001845.3:p.Gly1297Arg
NM_080629.2:c.3925G>A	NP_542196.2:p.Gly1309Arg
NM_080630.3:c.3541G>A	NP_542197.3:p.Gly1181Arg
XM_011540719.1:c.3889G>A	XP_011539021.1:p.Gly1297Arg
XM_011540720.1:c.2122G>A	XP_011539022.1:p.Gly708Arg
XM_011540721.1:c.1477G>A	XP_011539023.1:p.Gly493Arg
NR_134980.1:n.4223G>A
XM_017000334.1:c.4042G>A	XP_016855823.1:p.Gly1348Arg
XM_017000335.1:c.4036G>A	XP_016855824.1:p.Gly1346Arg
XM_017000336.1:c.4042G>A	XP_016855825.1:p.Gly1348Arg
XM_017000337.1:c.2440G>A	XP_016855826.1:p.Gly814Arg
NM_001854.4:c.3889G>A MANE Select	NP_001845.3:p.Gly1297Arg
NM_080630.4:c.3541G>A	NP_542197.3:p.Gly1181Arg
NR_134980.2:n.4249G>A
NM_001190709.2:c.3772G>A	NP_001177638.1:p.Gly1258Arg
NM_080629.3:c.3925G>A	NP_542196.2:p.Gly1309Arg