Canonical Allele Identifier: CA341162861

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444269C>T (hg19) ; chr1:g.102978713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978713C>T , CM000663.2:g.102978713C>T	GRCh38
NC_000001.10:g.103444269C>T , CM000663.1:g.103444269C>T	GRCh37
NC_000001.9:g.103216857C>T	NCBI36
NG_008033.1:g.134784G>A
NG_008033.2:g.134784G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.2749G>A MANE Select	ENSP00000359114.3:p.Glu917Lys
ENST00000353414.8:c.2632G>A	ENSP00000302551.6:p.Glu878Lys
ENST00000358392.6:c.2785G>A	ENSP00000351163.2:p.Glu929Lys
ENST00000370096.7:c.2749G>A	ENSP00000359114.3:p.Glu917Lys
ENST00000512756.5:c.2401G>A	ENSP00000426533.1:p.Glu801Lys
ENST00000635193.1:c.2083G>A
NM_001190709.1:c.2632G>A	NP_001177638.1:p.Glu878Lys
NM_001854.3:c.2749G>A	NP_001845.3:p.Glu917Lys
NM_080629.2:c.2785G>A	NP_542196.2:p.Glu929Lys
NM_080630.3:c.2401G>A	NP_542197.3:p.Glu801Lys
XM_011540719.1:c.2749G>A	XP_011539021.1:p.Glu917Lys
XM_011540720.1:c.982G>A	XP_011539022.1:p.Glu328Lys
XM_011540721.1:c.337G>A	XP_011539023.1:p.Glu113Lys
XR_946545.1:n.3163G>A
NR_134980.1:n.3083G>A
XM_017000334.1:c.2902G>A	XP_016855823.1:p.Glu968Lys
XM_017000335.1:c.2896G>A	XP_016855824.1:p.Glu966Lys
XM_017000336.1:c.2902G>A	XP_016855825.1:p.Glu968Lys
XM_017000337.1:c.1300G>A	XP_016855826.1:p.Glu434Lys
NM_001854.4:c.2749G>A MANE Select	NP_001845.3:p.Glu917Lys
NM_080630.4:c.2401G>A	NP_542197.3:p.Glu801Lys
NR_134980.2:n.3109G>A
NM_001190709.2:c.2632G>A	NP_001177638.1:p.Glu878Lys
NM_080629.3:c.2785G>A	NP_542196.2:p.Glu929Lys