Canonical Allele Identifier: CA341162859

Gene: COL11A1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.2750A>C MANE Select	ENSP00000359114.3:p.Glu917Ala
ENST00000353414.8:c.2633A>C	ENSP00000302551.6:p.Glu878Ala
ENST00000358392.6:c.2786A>C	ENSP00000351163.2:p.Glu929Ala
ENST00000370096.7:c.2750A>C	ENSP00000359114.3:p.Glu917Ala
ENST00000512756.5:c.2402A>C	ENSP00000426533.1:p.Glu801Ala
ENST00000635193.1:c.2084A>C
NM_001190709.1:c.2633A>C	NP_001177638.1:p.Glu878Ala
NM_001854.3:c.2750A>C	NP_001845.3:p.Glu917Ala
NM_080629.2:c.2786A>C	NP_542196.2:p.Glu929Ala
NM_080630.3:c.2402A>C	NP_542197.3:p.Glu801Ala
XM_011540719.1:c.2750A>C	XP_011539021.1:p.Glu917Ala
XM_011540720.1:c.983A>C	XP_011539022.1:p.Glu328Ala
XM_011540721.1:c.338A>C	XP_011539023.1:p.Glu113Ala
XR_946545.1:n.3164A>C
NR_134980.1:n.3084A>C
XM_017000334.1:c.2903A>C	XP_016855823.1:p.Glu968Ala
XM_017000335.1:c.2897A>C	XP_016855824.1:p.Glu966Ala
XM_017000336.1:c.2903A>C	XP_016855825.1:p.Glu968Ala
XM_017000337.1:c.1301A>C	XP_016855826.1:p.Glu434Ala
NM_001854.4:c.2750A>C MANE Select	NP_001845.3:p.Glu917Ala
NM_080630.4:c.2402A>C	NP_542197.3:p.Glu801Ala
NR_134980.2:n.3110A>C
NM_001190709.2:c.2633A>C	NP_001177638.1:p.Glu878Ala
NM_080629.3:c.2786A>C	NP_542196.2:p.Glu929Ala