Canonical Allele Identifier: CA341171329

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412481G>C (hg19) ; chr1:g.102946925G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946925G>C , CM000663.2:g.102946925G>C	GRCh38
NC_000001.10:g.103412481G>C , CM000663.1:g.103412481G>C	GRCh37
NC_000001.9:g.103185069G>C	NCBI36
NG_008033.1:g.166572C>G
NG_008033.2:g.166572C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3200C>G MANE Select	ENSP00000359114.3:p.Thr1067Arg
ENST00000353414.8:c.3083C>G	ENSP00000302551.6:p.Thr1028Arg
ENST00000358392.6:c.3236C>G	ENSP00000351163.2:p.Thr1079Arg
ENST00000370096.7:c.3200C>G	ENSP00000359114.3:p.Thr1067Arg
ENST00000512756.5:c.2852C>G	ENSP00000426533.1:p.Thr951Arg
ENST00000635193.1:c.2534C>G
NM_001190709.1:c.3083C>G	NP_001177638.1:p.Thr1028Arg
NM_001854.3:c.3200C>G	NP_001845.3:p.Thr1067Arg
NM_080629.2:c.3236C>G	NP_542196.2:p.Thr1079Arg
NM_080630.3:c.2852C>G	NP_542197.3:p.Thr951Arg
XM_011540719.1:c.3200C>G	XP_011539021.1:p.Thr1067Arg
XM_011540720.1:c.1433C>G	XP_011539022.1:p.Thr478Arg
XM_011540721.1:c.788C>G	XP_011539023.1:p.Thr263Arg
NR_134980.1:n.3534C>G
XM_017000334.1:c.3353C>G	XP_016855823.1:p.Thr1118Arg
XM_017000335.1:c.3347C>G	XP_016855824.1:p.Thr1116Arg
XM_017000336.1:c.3353C>G	XP_016855825.1:p.Thr1118Arg
XM_017000337.1:c.1751C>G	XP_016855826.1:p.Thr584Arg
NM_001854.4:c.3200C>G MANE Select	NP_001845.3:p.Thr1067Arg
NM_080630.4:c.2852C>G	NP_542197.3:p.Thr951Arg
NR_134980.2:n.3560C>G
NM_001190709.2:c.3083C>G	NP_001177638.1:p.Thr1028Arg
NM_080629.3:c.3236C>G	NP_542196.2:p.Thr1079Arg