Canonical Allele Identifier: CA341155555

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025561T>G , CM000663.2:g.103025561T>G	GRCh38
NC_000001.10:g.103491117T>G , CM000663.1:g.103491117T>G	GRCh37
NC_000001.9:g.103263705T>G	NCBI36
NG_008033.1:g.87936A>C
NG_008033.2:g.87936A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.950A>C MANE Select	NP_001845.3:p.Tyr317Ser
ENST00000370096.9:c.950A>C MANE Select	ENSP00000359114.3:p.Tyr317Ser
NM_001190709.1:c.833A>C	NP_001177638.1:p.Tyr278Ser
NM_001190709.2:c.833A>C	NP_001177638.1:p.Tyr278Ser
NM_001854.3:c.950A>C	NP_001845.3:p.Tyr317Ser
NM_080629.2:c.986A>C	NP_542196.2:p.Tyr329Ser
NM_080629.3:c.986A>C	NP_542196.2:p.Tyr329Ser
NM_080630.3:c.897+655A>C	NP_542197.3:n.897+655A>C
NM_080630.4:c.897+655A>C	NP_542197.3:n.897+655A>C
NR_134980.1:n.1268A>C
NR_134980.2:n.1294A>C
ENST00000353414.8:c.833A>C	ENSP00000302551.6:p.Tyr278Ser
ENST00000358392.6:c.986A>C	ENSP00000351163.2:p.Tyr329Ser
ENST00000370096.7:c.950A>C	ENSP00000359114.3:p.Tyr317Ser
ENST00000427239.5:c.986A>C	ENSP00000408640.1:p.Tyr329Ser
ENST00000461720.6:c.1103A>C	ENSP00000494909.1:p.Tyr368Ser
ENST00000512756.5:c.897+655A>C	ENSP00000426533.1:n.897+655A>C
ENST00000635193.1:c.268A>C
ENST00000644186.1:c.950A>C	ENSP00000493821.1:p.Tyr317Ser
ENST00000645458.1:c.950A>C	ENSP00000494179.1:p.Tyr317Ser
ENST00000647280.1:c.950A>C	ENSP00000494583.1:p.Tyr317Ser
XM_011540719.1:c.950A>C	XP_011539021.1:p.Tyr317Ser
XM_011540721.1:c.-1479A>C	XP_011539023.1:n.-1479A>C
XM_017000334.1:c.1103A>C	XP_016855823.1:p.Tyr368Ser
XM_017000335.1:c.1097A>C	XP_016855824.1:p.Tyr366Ser
XM_017000336.1:c.1103A>C	XP_016855825.1:p.Tyr368Ser
XR_946545.1:n.1348A>C