Canonical Allele Identifier: CA419198118

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103380302A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914746A>C , CM000663.2:g.102914746A>C	GRCh38
NC_000001.10:g.103380302A>C , CM000663.1:g.103380302A>C	GRCh37
NC_000001.9:g.103152890A>C	NCBI36
NG_008033.1:g.198751T>G
NG_008033.2:g.198751T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3882T>G MANE Select	ENSP00000359114.3:p.Gly1294=
ENST00000353414.8:c.3765T>G	ENSP00000302551.6:p.Gly1255=
ENST00000358392.6:c.3918T>G	ENSP00000351163.2:p.Gly1306=
ENST00000370096.7:c.3882T>G	ENSP00000359114.3:p.Gly1294=
ENST00000512756.5:c.3534T>G	ENSP00000426533.1:p.Gly1178=
ENST00000635193.1:c.3216T>G
NM_001190709.1:c.3765T>G	NP_001177638.1:p.Gly1255=
NM_001854.3:c.3882T>G	NP_001845.3:p.Gly1294=
NM_080629.2:c.3918T>G	NP_542196.2:p.Gly1306=
NM_080630.3:c.3534T>G	NP_542197.3:p.Gly1178=
XM_011540719.1:c.3882T>G	XP_011539021.1:p.Gly1294=
XM_011540720.1:c.2115T>G	XP_011539022.1:p.Gly705=
XM_011540721.1:c.1470T>G	XP_011539023.1:p.Gly490=
NR_134980.1:n.4216T>G
XM_017000334.1:c.4035T>G	XP_016855823.1:p.Gly1345=
XM_017000335.1:c.4029T>G	XP_016855824.1:p.Gly1343=
XM_017000336.1:c.4035T>G	XP_016855825.1:p.Gly1345=
XM_017000337.1:c.2433T>G	XP_016855826.1:p.Gly811=
NM_001854.4:c.3882T>G MANE Select	NP_001845.3:p.Gly1294=
NM_080630.4:c.3534T>G	NP_542197.3:p.Gly1178=
NR_134980.2:n.4242T>G
NM_001190709.2:c.3765T>G	NP_001177638.1:p.Gly1255=
NM_080629.3:c.3918T>G	NP_542196.2:p.Gly1306=