Canonical Allele Identifier: CA419199824

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444264T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978708T>C , CM000663.2:g.102978708T>C	GRCh38
NC_000001.10:g.103444264T>C , CM000663.1:g.103444264T>C	GRCh37
NC_000001.9:g.103216852T>C	NCBI36
NG_008033.1:g.134789A>G
NG_008033.2:g.134789A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2754A>G MANE Select	ENSP00000359114.3:p.Arg918=
ENST00000353414.8:c.2637A>G	ENSP00000302551.6:p.Arg879=
ENST00000358392.6:c.2790A>G	ENSP00000351163.2:p.Arg930=
ENST00000370096.7:c.2754A>G	ENSP00000359114.3:p.Arg918=
ENST00000512756.5:c.2406A>G	ENSP00000426533.1:p.Arg802=
ENST00000635193.1:c.2088A>G
NM_001190709.1:c.2637A>G	NP_001177638.1:p.Arg879=
NM_001854.3:c.2754A>G	NP_001845.3:p.Arg918=
NM_080629.2:c.2790A>G	NP_542196.2:p.Arg930=
NM_080630.3:c.2406A>G	NP_542197.3:p.Arg802=
XM_011540719.1:c.2754A>G	XP_011539021.1:p.Arg918=
XM_011540720.1:c.987A>G	XP_011539022.1:p.Arg329=
XM_011540721.1:c.342A>G	XP_011539023.1:p.Arg114=
XR_946545.1:n.3168A>G
NR_134980.1:n.3088A>G
XM_017000334.1:c.2907A>G	XP_016855823.1:p.Arg969=
XM_017000335.1:c.2901A>G	XP_016855824.1:p.Arg967=
XM_017000336.1:c.2907A>G	XP_016855825.1:p.Arg969=
XM_017000337.1:c.1305A>G	XP_016855826.1:p.Arg435=
NM_001854.4:c.2754A>G MANE Select	NP_001845.3:p.Arg918=
NM_080630.4:c.2406A>G	NP_542197.3:p.Arg802=
NR_134980.2:n.3114A>G
NM_001190709.2:c.2637A>G	NP_001177638.1:p.Arg879=
NM_080629.3:c.2790A>G	NP_542196.2:p.Arg930=