Canonical Allele Identifier: CA341163208

Gene: COL11A1

Linked Data

• COSMIC: COSM5786056 ; COSM5786057
• MyVariant Identifiers: chr1:g.103444426G>T (hg19) ; chr1:g.102978870G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978870G>T , CM000663.2:g.102978870G>T	GRCh38
NC_000001.10:g.103444426G>T , CM000663.1:g.103444426G>T	GRCh37
NC_000001.9:g.103217014G>T	NCBI36
NG_008033.1:g.134627C>A
NG_008033.2:g.134627C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2699C>A MANE Select	ENSP00000359114.3:p.Pro900His
ENST00000353414.8:c.2582C>A	ENSP00000302551.6:p.Pro861His
ENST00000358392.6:c.2735C>A	ENSP00000351163.2:p.Pro912His
ENST00000370096.7:c.2699C>A	ENSP00000359114.3:p.Pro900His
ENST00000512756.5:c.2351C>A	ENSP00000426533.1:p.Pro784His
ENST00000635193.1:c.2033C>A
NM_001190709.1:c.2582C>A	NP_001177638.1:p.Pro861His
NM_001854.3:c.2699C>A	NP_001845.3:p.Pro900His
NM_080629.2:c.2735C>A	NP_542196.2:p.Pro912His
NM_080630.3:c.2351C>A	NP_542197.3:p.Pro784His
XM_011540719.1:c.2699C>A	XP_011539021.1:p.Pro900His
XM_011540720.1:c.932C>A	XP_011539022.1:p.Pro311His
XM_011540721.1:c.287C>A	XP_011539023.1:p.Pro96His
XR_946545.1:n.3113C>A
NR_134980.1:n.3033C>A
XM_017000334.1:c.2852C>A	XP_016855823.1:p.Pro951His
XM_017000335.1:c.2846C>A	XP_016855824.1:p.Pro949His
XM_017000336.1:c.2852C>A	XP_016855825.1:p.Pro951His
XM_017000337.1:c.1250C>A	XP_016855826.1:p.Pro417His
NM_001854.4:c.2699C>A MANE Select	NP_001845.3:p.Pro900His
NM_080630.4:c.2351C>A	NP_542197.3:p.Pro784His
NR_134980.2:n.3059C>A
NM_001190709.2:c.2582C>A	NP_001177638.1:p.Pro861His
NM_080629.3:c.2735C>A	NP_542196.2:p.Pro912His