Canonical Allele Identifier: CA341163559

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444621G>T (hg19) ; chr1:g.102979065G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979065G>T , CM000663.2:g.102979065G>T	GRCh38
NC_000001.10:g.103444621G>T , CM000663.1:g.103444621G>T	GRCh37
NC_000001.9:g.103217209G>T	NCBI36
NG_008033.1:g.134432C>A
NG_008033.2:g.134432C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2650C>A MANE Select	ENSP00000359114.3:p.Pro884Thr
ENST00000353414.8:c.2533C>A	ENSP00000302551.6:p.Pro845Thr
ENST00000358392.6:c.2686C>A	ENSP00000351163.2:p.Pro896Thr
ENST00000370096.7:c.2650C>A	ENSP00000359114.3:p.Pro884Thr
ENST00000512756.5:c.2302C>A	ENSP00000426533.1:p.Pro768Thr
ENST00000635193.1:c.1984C>A
NM_001190709.1:c.2533C>A	NP_001177638.1:p.Pro845Thr
NM_001854.3:c.2650C>A	NP_001845.3:p.Pro884Thr
NM_080629.2:c.2686C>A	NP_542196.2:p.Pro896Thr
NM_080630.3:c.2302C>A	NP_542197.3:p.Pro768Thr
XM_011540719.1:c.2650C>A	XP_011539021.1:p.Pro884Thr
XM_011540720.1:c.883C>A	XP_011539022.1:p.Pro295Thr
XM_011540721.1:c.238C>A	XP_011539023.1:p.Pro80Thr
XR_946545.1:n.3064C>A
NR_134980.1:n.2984C>A
XM_017000334.1:c.2803C>A	XP_016855823.1:p.Pro935Thr
XM_017000335.1:c.2797C>A	XP_016855824.1:p.Pro933Thr
XM_017000336.1:c.2803C>A	XP_016855825.1:p.Pro935Thr
XM_017000337.1:c.1201C>A	XP_016855826.1:p.Pro401Thr
NM_001854.4:c.2650C>A MANE Select	NP_001845.3:p.Pro884Thr
NM_080630.4:c.2302C>A	NP_542197.3:p.Pro768Thr
NR_134980.2:n.3010C>A
NM_001190709.2:c.2533C>A	NP_001177638.1:p.Pro845Thr
NM_080629.3:c.2686C>A	NP_542196.2:p.Pro896Thr