Canonical Allele Identifier: CA341170172

Gene: COL11A1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102998321C>A , CM000663.2:g.102998321C>A	GRCh38
NC_000001.10:g.103463877C>A , CM000663.1:g.103463877C>A	GRCh37
NC_000001.9:g.103236465C>A	NCBI36
NG_008033.1:g.115176G>T
NG_008033.2:g.115176G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2185G>T MANE Select	ENSP00000359114.3:p.Asp729Tyr
ENST00000353414.8:c.2068G>T	ENSP00000302551.6:p.Asp690Tyr
ENST00000358392.6:c.2221G>T	ENSP00000351163.2:p.Asp741Tyr
ENST00000370096.7:c.2185G>T	ENSP00000359114.3:p.Asp729Tyr
ENST00000512756.5:c.1837G>T	ENSP00000426533.1:p.Asp613Tyr
ENST00000635193.1:c.1503G>T
NM_001190709.1:c.2068G>T	NP_001177638.1:p.Asp690Tyr
NM_001854.3:c.2185G>T	NP_001845.3:p.Asp729Tyr
NM_080629.2:c.2221G>T	NP_542196.2:p.Asp741Tyr
NM_080630.3:c.1837G>T	NP_542197.3:p.Asp613Tyr
XM_011540719.1:c.2185G>T	XP_011539021.1:p.Asp729Tyr
XM_011540720.1:c.418G>T	XP_011539022.1:p.Asp140Tyr
XM_011540721.1:c.-244G>T	XP_011539023.1:n.-244G>T
XR_946545.1:n.2583G>T
NR_134980.1:n.2503G>T
XM_017000334.1:c.2338G>T	XP_016855823.1:p.Asp780Tyr
XM_017000335.1:c.2332G>T	XP_016855824.1:p.Asp778Tyr
XM_017000336.1:c.2338G>T	XP_016855825.1:p.Asp780Tyr
XM_017000337.1:c.736G>T	XP_016855826.1:p.Asp246Tyr
NM_001854.4:c.2185G>T MANE Select	NP_001845.3:p.Asp729Tyr
NM_080630.4:c.1837G>T	NP_542197.3:p.Asp613Tyr
NR_134980.2:n.2529G>T
NM_001190709.2:c.2068G>T	NP_001177638.1:p.Asp690Tyr
NM_080629.3:c.2221G>T	NP_542196.2:p.Asp741Tyr