Canonical Allele Identifier: CA341171486

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412511C>T (hg19) ; chr1:g.102946955C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946955C>T , CM000663.2:g.102946955C>T	GRCh38
NC_000001.10:g.103412511C>T , CM000663.1:g.103412511C>T	GRCh37
NC_000001.9:g.103185099C>T	NCBI36
NG_008033.1:g.166542G>A
NG_008033.2:g.166542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3170G>A MANE Select	ENSP00000359114.3:p.Gly1057Asp
ENST00000353414.8:c.3053G>A	ENSP00000302551.6:p.Gly1018Asp
ENST00000358392.6:c.3206G>A	ENSP00000351163.2:p.Gly1069Asp
ENST00000370096.7:c.3170G>A	ENSP00000359114.3:p.Gly1057Asp
ENST00000512756.5:c.2822G>A	ENSP00000426533.1:p.Gly941Asp
ENST00000635193.1:c.2504G>A
NM_001190709.1:c.3053G>A	NP_001177638.1:p.Gly1018Asp
NM_001854.3:c.3170G>A	NP_001845.3:p.Gly1057Asp
NM_080629.2:c.3206G>A	NP_542196.2:p.Gly1069Asp
NM_080630.3:c.2822G>A	NP_542197.3:p.Gly941Asp
XM_011540719.1:c.3170G>A	XP_011539021.1:p.Gly1057Asp
XM_011540720.1:c.1403G>A	XP_011539022.1:p.Gly468Asp
XM_011540721.1:c.758G>A	XP_011539023.1:p.Gly253Asp
NR_134980.1:n.3504G>A
XM_017000334.1:c.3323G>A	XP_016855823.1:p.Gly1108Asp
XM_017000335.1:c.3317G>A	XP_016855824.1:p.Gly1106Asp
XM_017000336.1:c.3323G>A	XP_016855825.1:p.Gly1108Asp
XM_017000337.1:c.1721G>A	XP_016855826.1:p.Gly574Asp
NM_001854.4:c.3170G>A MANE Select	NP_001845.3:p.Gly1057Asp
NM_080630.4:c.2822G>A	NP_542197.3:p.Gly941Asp
NR_134980.2:n.3530G>A
NM_001190709.2:c.3053G>A	NP_001177638.1:p.Gly1018Asp
NM_080629.3:c.3206G>A	NP_542196.2:p.Gly1069Asp