Canonical Allele Identifier: CA341170987

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412436G>C (hg19) ; chr1:g.102946880G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946880G>C , CM000663.2:g.102946880G>C	GRCh38
NC_000001.10:g.103412436G>C , CM000663.1:g.103412436G>C	GRCh37
NC_000001.9:g.103185024G>C	NCBI36
NG_008033.1:g.166617C>G
NG_008033.2:g.166617C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3245C>G MANE Select	ENSP00000359114.3:p.Pro1082Arg
ENST00000353414.8:c.3128C>G	ENSP00000302551.6:p.Pro1043Arg
ENST00000358392.6:c.3281C>G	ENSP00000351163.2:p.Pro1094Arg
ENST00000370096.7:c.3245C>G	ENSP00000359114.3:p.Pro1082Arg
ENST00000512756.5:c.2897C>G	ENSP00000426533.1:p.Pro966Arg
ENST00000635193.1:c.2579C>G
NM_001190709.1:c.3128C>G	NP_001177638.1:p.Pro1043Arg
NM_001854.3:c.3245C>G	NP_001845.3:p.Pro1082Arg
NM_080629.2:c.3281C>G	NP_542196.2:p.Pro1094Arg
NM_080630.3:c.2897C>G	NP_542197.3:p.Pro966Arg
XM_011540719.1:c.3245C>G	XP_011539021.1:p.Pro1082Arg
XM_011540720.1:c.1478C>G	XP_011539022.1:p.Pro493Arg
XM_011540721.1:c.833C>G	XP_011539023.1:p.Pro278Arg
NR_134980.1:n.3579C>G
XM_017000334.1:c.3398C>G	XP_016855823.1:p.Pro1133Arg
XM_017000335.1:c.3392C>G	XP_016855824.1:p.Pro1131Arg
XM_017000336.1:c.3398C>G	XP_016855825.1:p.Pro1133Arg
XM_017000337.1:c.1796C>G	XP_016855826.1:p.Pro599Arg
NM_001854.4:c.3245C>G MANE Select	NP_001845.3:p.Pro1082Arg
NM_080630.4:c.2897C>G	NP_542197.3:p.Pro966Arg
NR_134980.2:n.3605C>G
NM_001190709.2:c.3128C>G	NP_001177638.1:p.Pro1043Arg
NM_080629.3:c.3281C>G	NP_542196.2:p.Pro1094Arg