Canonical Allele Identifier: CA419200402

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444637A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979081A>G , CM000663.2:g.102979081A>G	GRCh38
NC_000001.10:g.103444637A>G , CM000663.1:g.103444637A>G	GRCh37
NC_000001.9:g.103217225A>G	NCBI36
NG_008033.1:g.134416T>C
NG_008033.2:g.134416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2634T>C MANE Select	ENSP00000359114.3:p.Pro878=
ENST00000353414.8:c.2517T>C	ENSP00000302551.6:p.Pro839=
ENST00000358392.6:c.2670T>C	ENSP00000351163.2:p.Pro890=
ENST00000370096.7:c.2634T>C	ENSP00000359114.3:p.Pro878=
ENST00000512756.5:c.2286T>C	ENSP00000426533.1:p.Pro762=
ENST00000635193.1:c.1968T>C
NM_001190709.1:c.2517T>C	NP_001177638.1:p.Pro839=
NM_001854.3:c.2634T>C	NP_001845.3:p.Pro878=
NM_080629.2:c.2670T>C	NP_542196.2:p.Pro890=
NM_080630.3:c.2286T>C	NP_542197.3:p.Pro762=
XM_011540719.1:c.2634T>C	XP_011539021.1:p.Pro878=
XM_011540720.1:c.867T>C	XP_011539022.1:p.Pro289=
XM_011540721.1:c.222T>C	XP_011539023.1:p.Pro74=
XR_946545.1:n.3048T>C
NR_134980.1:n.2968T>C
XM_017000334.1:c.2787T>C	XP_016855823.1:p.Pro929=
XM_017000335.1:c.2781T>C	XP_016855824.1:p.Pro927=
XM_017000336.1:c.2787T>C	XP_016855825.1:p.Pro929=
XM_017000337.1:c.1185T>C	XP_016855826.1:p.Pro395=
NM_001854.4:c.2634T>C MANE Select	NP_001845.3:p.Pro878=
NM_080630.4:c.2286T>C	NP_542197.3:p.Pro762=
NR_134980.2:n.2994T>C
NM_001190709.2:c.2517T>C	NP_001177638.1:p.Pro839=
NM_080629.3:c.2670T>C	NP_542196.2:p.Pro890=