Canonical Allele Identifier: CA341162858

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444268T>C (hg19) ; chr1:g.102978712T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978712T>C , CM000663.2:g.102978712T>C	GRCh38
NC_000001.10:g.103444268T>C , CM000663.1:g.103444268T>C	GRCh37
NC_000001.9:g.103216856T>C	NCBI36
NG_008033.1:g.134785A>G
NG_008033.2:g.134785A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.2750A>G MANE Select	ENSP00000359114.3:p.Glu917Gly
ENST00000353414.8:c.2633A>G	ENSP00000302551.6:p.Glu878Gly
ENST00000358392.6:c.2786A>G	ENSP00000351163.2:p.Glu929Gly
ENST00000370096.7:c.2750A>G	ENSP00000359114.3:p.Glu917Gly
ENST00000512756.5:c.2402A>G	ENSP00000426533.1:p.Glu801Gly
ENST00000635193.1:c.2084A>G
NM_001190709.1:c.2633A>G	NP_001177638.1:p.Glu878Gly
NM_001854.3:c.2750A>G	NP_001845.3:p.Glu917Gly
NM_080629.2:c.2786A>G	NP_542196.2:p.Glu929Gly
NM_080630.3:c.2402A>G	NP_542197.3:p.Glu801Gly
XM_011540719.1:c.2750A>G	XP_011539021.1:p.Glu917Gly
XM_011540720.1:c.983A>G	XP_011539022.1:p.Glu328Gly
XM_011540721.1:c.338A>G	XP_011539023.1:p.Glu113Gly
XR_946545.1:n.3164A>G
NR_134980.1:n.3084A>G
XM_017000334.1:c.2903A>G	XP_016855823.1:p.Glu968Gly
XM_017000335.1:c.2897A>G	XP_016855824.1:p.Glu966Gly
XM_017000336.1:c.2903A>G	XP_016855825.1:p.Glu968Gly
XM_017000337.1:c.1301A>G	XP_016855826.1:p.Glu434Gly
NM_001854.4:c.2750A>G MANE Select	NP_001845.3:p.Glu917Gly
NM_080630.4:c.2402A>G	NP_542197.3:p.Glu801Gly
NR_134980.2:n.3110A>G
NM_001190709.2:c.2633A>G	NP_001177638.1:p.Glu878Gly
NM_080629.3:c.2786A>G	NP_542196.2:p.Glu929Gly