Canonical Allele Identifier: CA341155623

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025585T>G , CM000663.2:g.103025585T>G	GRCh38
NC_000001.10:g.103491141T>G , CM000663.1:g.103491141T>G	GRCh37
NC_000001.9:g.103263729T>G	NCBI36
NG_008033.1:g.87912A>C
NG_008033.2:g.87912A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.926A>C MANE Select	NP_001845.3:p.Tyr309Ser
ENST00000370096.9:c.926A>C MANE Select	ENSP00000359114.3:p.Tyr309Ser
NM_001190709.1:c.809A>C	NP_001177638.1:p.Tyr270Ser
NM_001190709.2:c.809A>C	NP_001177638.1:p.Tyr270Ser
NM_001854.3:c.926A>C	NP_001845.3:p.Tyr309Ser
NM_080629.2:c.962A>C	NP_542196.2:p.Tyr321Ser
NM_080629.3:c.962A>C	NP_542196.2:p.Tyr321Ser
NM_080630.3:c.897+631A>C	NP_542197.3:n.897+631A>C
NM_080630.4:c.897+631A>C	NP_542197.3:n.897+631A>C
NR_134980.1:n.1244A>C
NR_134980.2:n.1270A>C
ENST00000353414.8:c.809A>C	ENSP00000302551.6:p.Tyr270Ser
ENST00000358392.6:c.962A>C	ENSP00000351163.2:p.Tyr321Ser
ENST00000370096.7:c.926A>C	ENSP00000359114.3:p.Tyr309Ser
ENST00000427239.5:c.962A>C	ENSP00000408640.1:p.Tyr321Ser
ENST00000461720.6:c.1079A>C	ENSP00000494909.1:p.Tyr360Ser
ENST00000512756.5:c.897+631A>C	ENSP00000426533.1:n.897+631A>C
ENST00000635193.1:c.244A>C
ENST00000644186.1:c.926A>C	ENSP00000493821.1:p.Tyr309Ser
ENST00000645458.1:c.926A>C	ENSP00000494179.1:p.Tyr309Ser
ENST00000647280.1:c.926A>C	ENSP00000494583.1:p.Tyr309Ser
XM_011540719.1:c.926A>C	XP_011539021.1:p.Tyr309Ser
XM_011540721.1:c.-1503A>C	XP_011539023.1:n.-1503A>C
XM_017000334.1:c.1079A>C	XP_016855823.1:p.Tyr360Ser
XM_017000335.1:c.1073A>C	XP_016855824.1:p.Tyr358Ser
XM_017000336.1:c.1079A>C	XP_016855825.1:p.Tyr360Ser
XR_946545.1:n.1324A>C