Canonical Allele Identifier: CA419200006

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444303A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978747A>T , CM000663.2:g.102978747A>T	GRCh38
NC_000001.10:g.103444303A>T , CM000663.1:g.103444303A>T	GRCh37
NC_000001.9:g.103216891A>T	NCBI36
NG_008033.1:g.134750T>A
NG_008033.2:g.134750T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2715T>A MANE Select	ENSP00000359114.3:p.Thr905=
ENST00000353414.8:c.2598T>A	ENSP00000302551.6:p.Thr866=
ENST00000358392.6:c.2751T>A	ENSP00000351163.2:p.Thr917=
ENST00000370096.7:c.2715T>A	ENSP00000359114.3:p.Thr905=
ENST00000512756.5:c.2367T>A	ENSP00000426533.1:p.Thr789=
ENST00000635193.1:c.2049T>A
NM_001190709.1:c.2598T>A	NP_001177638.1:p.Thr866=
NM_001854.3:c.2715T>A	NP_001845.3:p.Thr905=
NM_080629.2:c.2751T>A	NP_542196.2:p.Thr917=
NM_080630.3:c.2367T>A	NP_542197.3:p.Thr789=
XM_011540719.1:c.2715T>A	XP_011539021.1:p.Thr905=
XM_011540720.1:c.948T>A	XP_011539022.1:p.Thr316=
XM_011540721.1:c.303T>A	XP_011539023.1:p.Thr101=
XR_946545.1:n.3129T>A
NR_134980.1:n.3049T>A
XM_017000334.1:c.2868T>A	XP_016855823.1:p.Thr956=
XM_017000335.1:c.2862T>A	XP_016855824.1:p.Thr954=
XM_017000336.1:c.2868T>A	XP_016855825.1:p.Thr956=
XM_017000337.1:c.1266T>A	XP_016855826.1:p.Thr422=
NM_001854.4:c.2715T>A MANE Select	NP_001845.3:p.Thr905=
NM_080630.4:c.2367T>A	NP_542197.3:p.Thr789=
NR_134980.2:n.3075T>A
NM_001190709.2:c.2598T>A	NP_001177638.1:p.Thr866=
NM_080629.3:c.2751T>A	NP_542196.2:p.Thr917=