Canonical Allele Identifier: CA341155663

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025595A>G , CM000663.2:g.103025595A>G	GRCh38
NC_000001.10:g.103491151A>G , CM000663.1:g.103491151A>G	GRCh37
NC_000001.9:g.103263739A>G	NCBI36
NG_008033.1:g.87902T>C
NG_008033.2:g.87902T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.916T>C MANE Select	NP_001845.3:p.Phe306Leu
ENST00000370096.9:c.916T>C MANE Select	ENSP00000359114.3:p.Phe306Leu
NM_001190709.1:c.799T>C	NP_001177638.1:p.Phe267Leu
NM_001190709.2:c.799T>C	NP_001177638.1:p.Phe267Leu
NM_001854.3:c.916T>C	NP_001845.3:p.Phe306Leu
NM_080629.2:c.952T>C	NP_542196.2:p.Phe318Leu
NM_080629.3:c.952T>C	NP_542196.2:p.Phe318Leu
NM_080630.3:c.897+621T>C	NP_542197.3:n.897+621T>C
NM_080630.4:c.897+621T>C	NP_542197.3:n.897+621T>C
NR_134980.1:n.1234T>C
NR_134980.2:n.1260T>C
ENST00000353414.8:c.799T>C	ENSP00000302551.6:p.Phe267Leu
ENST00000358392.6:c.952T>C	ENSP00000351163.2:p.Phe318Leu
ENST00000370096.7:c.916T>C	ENSP00000359114.3:p.Phe306Leu
ENST00000427239.5:c.952T>C	ENSP00000408640.1:p.Phe318Leu
ENST00000461720.6:c.1069T>C	ENSP00000494909.1:p.Phe357Leu
ENST00000512756.5:c.897+621T>C	ENSP00000426533.1:n.897+621T>C
ENST00000635193.1:c.234T>C
ENST00000644186.1:c.916T>C	ENSP00000493821.1:p.Phe306Leu
ENST00000645458.1:c.916T>C	ENSP00000494179.1:p.Phe306Leu
ENST00000647280.1:c.916T>C	ENSP00000494583.1:p.Phe306Leu
XM_011540719.1:c.916T>C	XP_011539021.1:p.Phe306Leu
XM_011540721.1:c.-1513T>C	XP_011539023.1:n.-1513T>C
XM_017000334.1:c.1069T>C	XP_016855823.1:p.Phe357Leu
XM_017000335.1:c.1063T>C	XP_016855824.1:p.Phe355Leu
XM_017000336.1:c.1069T>C	XP_016855825.1:p.Phe357Leu
XR_946545.1:n.1314T>C