Canonical Allele Identifier: CA341170814

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412407G>T (hg19) ; chr1:g.102946851G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946851G>T , CM000663.2:g.102946851G>T	GRCh38
NC_000001.10:g.103412407G>T , CM000663.1:g.103412407G>T	GRCh37
NC_000001.9:g.103184995G>T	NCBI36
NG_008033.1:g.166646C>A
NG_008033.2:g.166646C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3274C>A MANE Select	ENSP00000359114.3:p.Pro1092Thr
ENST00000353414.8:c.3157C>A	ENSP00000302551.6:p.Pro1053Thr
ENST00000358392.6:c.3310C>A	ENSP00000351163.2:p.Pro1104Thr
ENST00000370096.7:c.3274C>A	ENSP00000359114.3:p.Pro1092Thr
ENST00000512756.5:c.2926C>A	ENSP00000426533.1:p.Pro976Thr
ENST00000635193.1:c.2608C>A
NM_001190709.1:c.3157C>A	NP_001177638.1:p.Pro1053Thr
NM_001854.3:c.3274C>A	NP_001845.3:p.Pro1092Thr
NM_080629.2:c.3310C>A	NP_542196.2:p.Pro1104Thr
NM_080630.3:c.2926C>A	NP_542197.3:p.Pro976Thr
XM_011540719.1:c.3274C>A	XP_011539021.1:p.Pro1092Thr
XM_011540720.1:c.1507C>A	XP_011539022.1:p.Pro503Thr
XM_011540721.1:c.862C>A	XP_011539023.1:p.Pro288Thr
NR_134980.1:n.3608C>A
XM_017000334.1:c.3427C>A	XP_016855823.1:p.Pro1143Thr
XM_017000335.1:c.3421C>A	XP_016855824.1:p.Pro1141Thr
XM_017000336.1:c.3427C>A	XP_016855825.1:p.Pro1143Thr
XM_017000337.1:c.1825C>A	XP_016855826.1:p.Pro609Thr
NM_001854.4:c.3274C>A MANE Select	NP_001845.3:p.Pro1092Thr
NM_080630.4:c.2926C>A	NP_542197.3:p.Pro976Thr
NR_134980.2:n.3634C>A
NM_001190709.2:c.3157C>A	NP_001177638.1:p.Pro1053Thr
NM_080629.3:c.3310C>A	NP_542196.2:p.Pro1104Thr