Canonical Allele Identifier: CA419199853

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444270A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978714A>G , CM000663.2:g.102978714A>G	GRCh38
NC_000001.10:g.103444270A>G , CM000663.1:g.103444270A>G	GRCh37
NC_000001.9:g.103216858A>G	NCBI36
NG_008033.1:g.134783T>C
NG_008033.2:g.134783T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2748T>C MANE Select	ENSP00000359114.3:p.Gly916=
ENST00000353414.8:c.2631T>C	ENSP00000302551.6:p.Gly877=
ENST00000358392.6:c.2784T>C	ENSP00000351163.2:p.Gly928=
ENST00000370096.7:c.2748T>C	ENSP00000359114.3:p.Gly916=
ENST00000512756.5:c.2400T>C	ENSP00000426533.1:p.Gly800=
ENST00000635193.1:c.2082T>C
NM_001190709.1:c.2631T>C	NP_001177638.1:p.Gly877=
NM_001854.3:c.2748T>C	NP_001845.3:p.Gly916=
NM_080629.2:c.2784T>C	NP_542196.2:p.Gly928=
NM_080630.3:c.2400T>C	NP_542197.3:p.Gly800=
XM_011540719.1:c.2748T>C	XP_011539021.1:p.Gly916=
XM_011540720.1:c.981T>C	XP_011539022.1:p.Gly327=
XM_011540721.1:c.336T>C	XP_011539023.1:p.Gly112=
XR_946545.1:n.3162T>C
NR_134980.1:n.3082T>C
XM_017000334.1:c.2901T>C	XP_016855823.1:p.Gly967=
XM_017000335.1:c.2895T>C	XP_016855824.1:p.Gly965=
XM_017000336.1:c.2901T>C	XP_016855825.1:p.Gly967=
XM_017000337.1:c.1299T>C	XP_016855826.1:p.Gly433=
NM_001854.4:c.2748T>C MANE Select	NP_001845.3:p.Gly916=
NM_080630.4:c.2400T>C	NP_542197.3:p.Gly800=
NR_134980.2:n.3108T>C
NM_001190709.2:c.2631T>C	NP_001177638.1:p.Gly877=
NM_080629.3:c.2784T>C	NP_542196.2:p.Gly928=