Canonical Allele Identifier: CA975293

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 291542
• ClinVar RCV Id: RCV000321904 ; RCV000376489 ; RCV001569728 ; RCV002519363
• dbSNP Id: rs199539580
• ExAC: 1:103491824 T / C
• gnomAD v2: 1-103491824-T-C
• gnomAD v3: 1-103026268-T-C
• gnomAD v4: 1-103026268-T-C
• MyVariant Identifiers: chr1:g.103491824T>C (hg19) ; chr1:g.103026268T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103026268T>C , CM000663.2:g.103026268T>C	GRCh38
NC_000001.10:g.103491824T>C , CM000663.1:g.103491824T>C	GRCh37
NC_000001.9:g.103264412T>C	NCBI36
NG_008033.1:g.87229A>G
NG_008033.2:g.87229A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.845A>G MANE Select	ENSP00000359114.3:p.Glu282Gly
ENST00000461720.6:c.845A>G	ENSP00000494909.1:p.Glu282Gly
ENST00000644186.1:c.845A>G	ENSP00000493821.1:p.Glu282Gly
ENST00000645458.1:c.845A>G	ENSP00000494179.1:p.Glu282Gly
ENST00000647280.1:c.845A>G	ENSP00000494583.1:p.Glu282Gly
ENST00000353414.8:c.781-655A>G	ENSP00000302551.6:n.781-655A>G
ENST00000358392.6:c.781-316A>G	ENSP00000351163.2:n.781-316A>G
ENST00000370096.7:c.845A>G	ENSP00000359114.3:p.Glu282Gly
ENST00000427239.5:c.781-316A>G	ENSP00000408640.1:n.781-316A>G
ENST00000512756.5:c.845A>G	ENSP00000426533.1:p.Glu282Gly
ENST00000635193.1:c.163A>G
NM_001190709.1:c.781-655A>G	NP_001177638.1:n.781-655A>G
NM_001854.3:c.845A>G	NP_001845.3:p.Glu282Gly
NM_080629.2:c.781-316A>G	NP_542196.2:n.781-316A>G
NM_080630.3:c.845A>G	NP_542197.3:p.Glu282Gly
XM_011540719.1:c.845A>G	XP_011539021.1:p.Glu282Gly
XM_011540721.1:c.-1584A>G	XP_011539023.1:n.-1584A>G
XR_946545.1:n.1243A>G
NR_134980.1:n.1163A>G
XM_017000334.1:c.845A>G	XP_016855823.1:p.Glu282Gly
XM_017000335.1:c.845A>G	XP_016855824.1:p.Glu282Gly
XM_017000336.1:c.845A>G	XP_016855825.1:p.Glu282Gly
NM_001854.4:c.845A>G MANE Select	NP_001845.3:p.Glu282Gly
NM_080630.4:c.845A>G	NP_542197.3:p.Glu282Gly
NR_134980.2:n.1189A>G
NM_001190709.2:c.781-655A>G	NP_001177638.1:n.781-655A>G
NM_080629.3:c.781-316A>G	NP_542196.2:n.781-316A>G