Canonical Allele Identifier: CA341170884

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412418T>C (hg19) ; chr1:g.102946862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946862T>C , CM000663.2:g.102946862T>C	GRCh38
NC_000001.10:g.103412418T>C , CM000663.1:g.103412418T>C	GRCh37
NC_000001.9:g.103185006T>C	NCBI36
NG_008033.1:g.166635A>G
NG_008033.2:g.166635A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3263A>G MANE Select	ENSP00000359114.3:p.Glu1088Gly
ENST00000353414.8:c.3146A>G	ENSP00000302551.6:p.Glu1049Gly
ENST00000358392.6:c.3299A>G	ENSP00000351163.2:p.Glu1100Gly
ENST00000370096.7:c.3263A>G	ENSP00000359114.3:p.Glu1088Gly
ENST00000512756.5:c.2915A>G	ENSP00000426533.1:p.Glu972Gly
ENST00000635193.1:c.2597A>G
NM_001190709.1:c.3146A>G	NP_001177638.1:p.Glu1049Gly
NM_001854.3:c.3263A>G	NP_001845.3:p.Glu1088Gly
NM_080629.2:c.3299A>G	NP_542196.2:p.Glu1100Gly
NM_080630.3:c.2915A>G	NP_542197.3:p.Glu972Gly
XM_011540719.1:c.3263A>G	XP_011539021.1:p.Glu1088Gly
XM_011540720.1:c.1496A>G	XP_011539022.1:p.Glu499Gly
XM_011540721.1:c.851A>G	XP_011539023.1:p.Glu284Gly
NR_134980.1:n.3597A>G
XM_017000334.1:c.3416A>G	XP_016855823.1:p.Glu1139Gly
XM_017000335.1:c.3410A>G	XP_016855824.1:p.Glu1137Gly
XM_017000336.1:c.3416A>G	XP_016855825.1:p.Glu1139Gly
XM_017000337.1:c.1814A>G	XP_016855826.1:p.Glu605Gly
NM_001854.4:c.3263A>G MANE Select	NP_001845.3:p.Glu1088Gly
NM_080630.4:c.2915A>G	NP_542197.3:p.Glu972Gly
NR_134980.2:n.3623A>G
NM_001190709.2:c.3146A>G	NP_001177638.1:p.Glu1049Gly
NM_080629.3:c.3299A>G	NP_542196.2:p.Glu1100Gly