Canonical Allele Identifier: CA341163080

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444305T>G (hg19) ; chr1:g.102978749T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978749T>G , CM000663.2:g.102978749T>G	GRCh38
NC_000001.10:g.103444305T>G , CM000663.1:g.103444305T>G	GRCh37
NC_000001.9:g.103216893T>G	NCBI36
NG_008033.1:g.134748A>C
NG_008033.2:g.134748A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2713A>C MANE Select	ENSP00000359114.3:p.Thr905Pro
ENST00000353414.8:c.2596A>C	ENSP00000302551.6:p.Thr866Pro
ENST00000358392.6:c.2749A>C	ENSP00000351163.2:p.Thr917Pro
ENST00000370096.7:c.2713A>C	ENSP00000359114.3:p.Thr905Pro
ENST00000512756.5:c.2365A>C	ENSP00000426533.1:p.Thr789Pro
ENST00000635193.1:c.2047A>C
NM_001190709.1:c.2596A>C	NP_001177638.1:p.Thr866Pro
NM_001854.3:c.2713A>C	NP_001845.3:p.Thr905Pro
NM_080629.2:c.2749A>C	NP_542196.2:p.Thr917Pro
NM_080630.3:c.2365A>C	NP_542197.3:p.Thr789Pro
XM_011540719.1:c.2713A>C	XP_011539021.1:p.Thr905Pro
XM_011540720.1:c.946A>C	XP_011539022.1:p.Thr316Pro
XM_011540721.1:c.301A>C	XP_011539023.1:p.Thr101Pro
XR_946545.1:n.3127A>C
NR_134980.1:n.3047A>C
XM_017000334.1:c.2866A>C	XP_016855823.1:p.Thr956Pro
XM_017000335.1:c.2860A>C	XP_016855824.1:p.Thr954Pro
XM_017000336.1:c.2866A>C	XP_016855825.1:p.Thr956Pro
XM_017000337.1:c.1264A>C	XP_016855826.1:p.Thr422Pro
NM_001854.4:c.2713A>C MANE Select	NP_001845.3:p.Thr905Pro
NM_080630.4:c.2365A>C	NP_542197.3:p.Thr789Pro
NR_134980.2:n.3073A>C
NM_001190709.2:c.2596A>C	NP_001177638.1:p.Thr866Pro
NM_080629.3:c.2749A>C	NP_542196.2:p.Thr917Pro