Canonical Allele Identifier: CA419205387

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102946864-T-C
• MyVariant Identifiers: chr1:g.103412420T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946864T>C , CM000663.2:g.102946864T>C	GRCh38
NC_000001.10:g.103412420T>C , CM000663.1:g.103412420T>C	GRCh37
NC_000001.9:g.103185008T>C	NCBI36
NG_008033.1:g.166633A>G
NG_008033.2:g.166633A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3261A>G MANE Select	ENSP00000359114.3:p.Gly1087=
ENST00000353414.8:c.3144A>G	ENSP00000302551.6:p.Gly1048=
ENST00000358392.6:c.3297A>G	ENSP00000351163.2:p.Gly1099=
ENST00000370096.7:c.3261A>G	ENSP00000359114.3:p.Gly1087=
ENST00000512756.5:c.2913A>G	ENSP00000426533.1:p.Gly971=
ENST00000635193.1:c.2595A>G
NM_001190709.1:c.3144A>G	NP_001177638.1:p.Gly1048=
NM_001854.3:c.3261A>G	NP_001845.3:p.Gly1087=
NM_080629.2:c.3297A>G	NP_542196.2:p.Gly1099=
NM_080630.3:c.2913A>G	NP_542197.3:p.Gly971=
XM_011540719.1:c.3261A>G	XP_011539021.1:p.Gly1087=
XM_011540720.1:c.1494A>G	XP_011539022.1:p.Gly498=
XM_011540721.1:c.849A>G	XP_011539023.1:p.Gly283=
NR_134980.1:n.3595A>G
XM_017000334.1:c.3414A>G	XP_016855823.1:p.Gly1138=
XM_017000335.1:c.3408A>G	XP_016855824.1:p.Gly1136=
XM_017000336.1:c.3414A>G	XP_016855825.1:p.Gly1138=
XM_017000337.1:c.1812A>G	XP_016855826.1:p.Gly604=
NM_001854.4:c.3261A>G MANE Select	NP_001845.3:p.Gly1087=
NM_080630.4:c.2913A>G	NP_542197.3:p.Gly971=
NR_134980.2:n.3621A>G
NM_001190709.2:c.3144A>G	NP_001177638.1:p.Gly1048=
NM_080629.3:c.3297A>G	NP_542196.2:p.Gly1099=