Canonical Allele Identifier: CA341163213

Gene: COL11A1

Linked Data

• COSMIC: COSM6120270 ; COSM6120271
• MyVariant Identifiers: chr1:g.103444427G>T (hg19) ; chr1:g.102978871G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978871G>T , CM000663.2:g.102978871G>T	GRCh38
NC_000001.10:g.103444427G>T , CM000663.1:g.103444427G>T	GRCh37
NC_000001.9:g.103217015G>T	NCBI36
NG_008033.1:g.134626C>A
NG_008033.2:g.134626C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2698C>A MANE Select	ENSP00000359114.3:p.Pro900Thr
ENST00000353414.8:c.2581C>A	ENSP00000302551.6:p.Pro861Thr
ENST00000358392.6:c.2734C>A	ENSP00000351163.2:p.Pro912Thr
ENST00000370096.7:c.2698C>A	ENSP00000359114.3:p.Pro900Thr
ENST00000512756.5:c.2350C>A	ENSP00000426533.1:p.Pro784Thr
ENST00000635193.1:c.2032C>A
NM_001190709.1:c.2581C>A	NP_001177638.1:p.Pro861Thr
NM_001854.3:c.2698C>A	NP_001845.3:p.Pro900Thr
NM_080629.2:c.2734C>A	NP_542196.2:p.Pro912Thr
NM_080630.3:c.2350C>A	NP_542197.3:p.Pro784Thr
XM_011540719.1:c.2698C>A	XP_011539021.1:p.Pro900Thr
XM_011540720.1:c.931C>A	XP_011539022.1:p.Pro311Thr
XM_011540721.1:c.286C>A	XP_011539023.1:p.Pro96Thr
XR_946545.1:n.3112C>A
NR_134980.1:n.3032C>A
XM_017000334.1:c.2851C>A	XP_016855823.1:p.Pro951Thr
XM_017000335.1:c.2845C>A	XP_016855824.1:p.Pro949Thr
XM_017000336.1:c.2851C>A	XP_016855825.1:p.Pro951Thr
XM_017000337.1:c.1249C>A	XP_016855826.1:p.Pro417Thr
NM_001854.4:c.2698C>A MANE Select	NP_001845.3:p.Pro900Thr
NM_080630.4:c.2350C>A	NP_542197.3:p.Pro784Thr
NR_134980.2:n.3058C>A
NM_001190709.2:c.2581C>A	NP_001177638.1:p.Pro861Thr
NM_080629.3:c.2734C>A	NP_542196.2:p.Pro912Thr