Canonical Allele Identifier: CA341171332

Gene: COL11A1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3200C>A MANE Select	ENSP00000359114.3:p.Thr1067Lys
ENST00000353414.8:c.3083C>A	ENSP00000302551.6:p.Thr1028Lys
ENST00000358392.6:c.3236C>A	ENSP00000351163.2:p.Thr1079Lys
ENST00000370096.7:c.3200C>A	ENSP00000359114.3:p.Thr1067Lys
ENST00000512756.5:c.2852C>A	ENSP00000426533.1:p.Thr951Lys
ENST00000635193.1:c.2534C>A
NM_001190709.1:c.3083C>A	NP_001177638.1:p.Thr1028Lys
NM_001854.3:c.3200C>A	NP_001845.3:p.Thr1067Lys
NM_080629.2:c.3236C>A	NP_542196.2:p.Thr1079Lys
NM_080630.3:c.2852C>A	NP_542197.3:p.Thr951Lys
XM_011540719.1:c.3200C>A	XP_011539021.1:p.Thr1067Lys
XM_011540720.1:c.1433C>A	XP_011539022.1:p.Thr478Lys
XM_011540721.1:c.788C>A	XP_011539023.1:p.Thr263Lys
NR_134980.1:n.3534C>A
XM_017000334.1:c.3353C>A	XP_016855823.1:p.Thr1118Lys
XM_017000335.1:c.3347C>A	XP_016855824.1:p.Thr1116Lys
XM_017000336.1:c.3353C>A	XP_016855825.1:p.Thr1118Lys
XM_017000337.1:c.1751C>A	XP_016855826.1:p.Thr584Lys
NM_001854.4:c.3200C>A MANE Select	NP_001845.3:p.Thr1067Lys
NM_080630.4:c.2852C>A	NP_542197.3:p.Thr951Lys
NR_134980.2:n.3560C>A
NM_001190709.2:c.3083C>A	NP_001177638.1:p.Thr1028Lys
NM_080629.3:c.3236C>A	NP_542196.2:p.Thr1079Lys