Canonical Allele Identifier: CA419205562

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412495A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946939A>C , CM000663.2:g.102946939A>C	GRCh38
NC_000001.10:g.103412495A>C , CM000663.1:g.103412495A>C	GRCh37
NC_000001.9:g.103185083A>C	NCBI36
NG_008033.1:g.166558T>G
NG_008033.2:g.166558T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3186T>G MANE Select	ENSP00000359114.3:p.Arg1062=
ENST00000353414.8:c.3069T>G	ENSP00000302551.6:p.Arg1023=
ENST00000358392.6:c.3222T>G	ENSP00000351163.2:p.Arg1074=
ENST00000370096.7:c.3186T>G	ENSP00000359114.3:p.Arg1062=
ENST00000512756.5:c.2838T>G	ENSP00000426533.1:p.Arg946=
ENST00000635193.1:c.2520T>G
NM_001190709.1:c.3069T>G	NP_001177638.1:p.Arg1023=
NM_001854.3:c.3186T>G	NP_001845.3:p.Arg1062=
NM_080629.2:c.3222T>G	NP_542196.2:p.Arg1074=
NM_080630.3:c.2838T>G	NP_542197.3:p.Arg946=
XM_011540719.1:c.3186T>G	XP_011539021.1:p.Arg1062=
XM_011540720.1:c.1419T>G	XP_011539022.1:p.Arg473=
XM_011540721.1:c.774T>G	XP_011539023.1:p.Arg258=
NR_134980.1:n.3520T>G
XM_017000334.1:c.3339T>G	XP_016855823.1:p.Arg1113=
XM_017000335.1:c.3333T>G	XP_016855824.1:p.Arg1111=
XM_017000336.1:c.3339T>G	XP_016855825.1:p.Arg1113=
XM_017000337.1:c.1737T>G	XP_016855826.1:p.Arg579=
NM_001854.4:c.3186T>G MANE Select	NP_001845.3:p.Arg1062=
NM_080630.4:c.2838T>G	NP_542197.3:p.Arg946=
NR_134980.2:n.3546T>G
NM_001190709.2:c.3069T>G	NP_001177638.1:p.Arg1023=
NM_080629.3:c.3222T>G	NP_542196.2:p.Arg1074=