Canonical Allele Identifier: CA341155598

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025579T>A , CM000663.2:g.103025579T>A	GRCh38
NC_000001.10:g.103491135T>A , CM000663.1:g.103491135T>A	GRCh37
NC_000001.9:g.103263723T>A	NCBI36
NG_008033.1:g.87918A>T
NG_008033.2:g.87918A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.932A>T MANE Select	NP_001845.3:p.Tyr311Phe
ENST00000370096.9:c.932A>T MANE Select	ENSP00000359114.3:p.Tyr311Phe
NM_001190709.1:c.815A>T	NP_001177638.1:p.Tyr272Phe
NM_001190709.2:c.815A>T	NP_001177638.1:p.Tyr272Phe
NM_001854.3:c.932A>T	NP_001845.3:p.Tyr311Phe
NM_080629.2:c.968A>T	NP_542196.2:p.Tyr323Phe
NM_080629.3:c.968A>T	NP_542196.2:p.Tyr323Phe
NM_080630.3:c.897+637A>T	NP_542197.3:n.897+637A>T
NM_080630.4:c.897+637A>T	NP_542197.3:n.897+637A>T
NR_134980.1:n.1250A>T
NR_134980.2:n.1276A>T
ENST00000353414.8:c.815A>T	ENSP00000302551.6:p.Tyr272Phe
ENST00000358392.6:c.968A>T	ENSP00000351163.2:p.Tyr323Phe
ENST00000370096.7:c.932A>T	ENSP00000359114.3:p.Tyr311Phe
ENST00000427239.5:c.968A>T	ENSP00000408640.1:p.Tyr323Phe
ENST00000461720.6:c.1085A>T	ENSP00000494909.1:p.Tyr362Phe
ENST00000512756.5:c.897+637A>T	ENSP00000426533.1:n.897+637A>T
ENST00000635193.1:c.250A>T
ENST00000644186.1:c.932A>T	ENSP00000493821.1:p.Tyr311Phe
ENST00000645458.1:c.932A>T	ENSP00000494179.1:p.Tyr311Phe
ENST00000647280.1:c.932A>T	ENSP00000494583.1:p.Tyr311Phe
XM_011540719.1:c.932A>T	XP_011539021.1:p.Tyr311Phe
XM_011540721.1:c.-1497A>T	XP_011539023.1:n.-1497A>T
XM_017000334.1:c.1085A>T	XP_016855823.1:p.Tyr362Phe
XM_017000335.1:c.1079A>T	XP_016855824.1:p.Tyr360Phe
XM_017000336.1:c.1085A>T	XP_016855825.1:p.Tyr362Phe
XR_946545.1:n.1330A>T