Canonical Allele Identifier: CA341162857

Gene: COL11A1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.2750A>T MANE Select	ENSP00000359114.3:p.Glu917Val
ENST00000353414.8:c.2633A>T	ENSP00000302551.6:p.Glu878Val
ENST00000358392.6:c.2786A>T	ENSP00000351163.2:p.Glu929Val
ENST00000370096.7:c.2750A>T	ENSP00000359114.3:p.Glu917Val
ENST00000512756.5:c.2402A>T	ENSP00000426533.1:p.Glu801Val
ENST00000635193.1:c.2084A>T
NM_001190709.1:c.2633A>T	NP_001177638.1:p.Glu878Val
NM_001854.3:c.2750A>T	NP_001845.3:p.Glu917Val
NM_080629.2:c.2786A>T	NP_542196.2:p.Glu929Val
NM_080630.3:c.2402A>T	NP_542197.3:p.Glu801Val
XM_011540719.1:c.2750A>T	XP_011539021.1:p.Glu917Val
XM_011540720.1:c.983A>T	XP_011539022.1:p.Glu328Val
XM_011540721.1:c.338A>T	XP_011539023.1:p.Glu113Val
XR_946545.1:n.3164A>T
NR_134980.1:n.3084A>T
XM_017000334.1:c.2903A>T	XP_016855823.1:p.Glu968Val
XM_017000335.1:c.2897A>T	XP_016855824.1:p.Glu966Val
XM_017000336.1:c.2903A>T	XP_016855825.1:p.Glu968Val
XM_017000337.1:c.1301A>T	XP_016855826.1:p.Glu434Val
NM_001854.4:c.2750A>T MANE Select	NP_001845.3:p.Glu917Val
NM_080630.4:c.2402A>T	NP_542197.3:p.Glu801Val
NR_134980.2:n.3110A>T
NM_001190709.2:c.2633A>T	NP_001177638.1:p.Glu878Val
NM_080629.3:c.2786A>T	NP_542196.2:p.Glu929Val