Canonical Allele Identifier: CA975168

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025491C>T , CM000663.2:g.103025491C>T	GRCh38
NC_000001.10:g.103491047C>T , CM000663.1:g.103491047C>T	GRCh37
NC_000001.9:g.103263635C>T	NCBI36
NG_008033.1:g.88006G>A
NG_008033.2:g.88006G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.990+30G>A MANE Select	NP_001845.3:n.990+30G>A
ENST00000370096.9:c.990+30G>A MANE Select	ENSP00000359114.3:n.990+30G>A
NM_001190709.1:c.873+30G>A	NP_001177638.1:n.873+30G>A
NM_001190709.2:c.873+30G>A	NP_001177638.1:n.873+30G>A
NM_001854.3:c.990+30G>A	NP_001845.3:n.990+30G>A
NM_080629.2:c.1026+30G>A	NP_542196.2:n.1026+30G>A
NM_080629.3:c.1026+30G>A	NP_542196.2:n.1026+30G>A
NM_080630.3:c.897+725G>A	NP_542197.3:n.897+725G>A
NM_080630.4:c.897+725G>A	NP_542197.3:n.897+725G>A
NR_134980.1:n.1308+30G>A
NR_134980.2:n.1334+30G>A
ENST00000353414.8:c.873+30G>A	ENSP00000302551.6:n.873+30G>A
ENST00000358392.6:c.1026+30G>A	ENSP00000351163.2:n.1026+30G>A
ENST00000370096.7:c.990+30G>A	ENSP00000359114.3:n.990+30G>A
ENST00000427239.5:c.1026+30G>A	ENSP00000408640.1:n.1026+30G>A
ENST00000461720.6:c.1143+30G>A	ENSP00000494909.1:n.1143+30G>A
ENST00000512756.5:c.897+725G>A	ENSP00000426533.1:n.897+725G>A
ENST00000635193.1:c.308+30G>A
ENST00000644186.1:c.990+30G>A	ENSP00000493821.1:n.990+30G>A
ENST00000645458.1:c.990+30G>A	ENSP00000494179.1:n.990+30G>A
ENST00000647280.1:c.990+30G>A	ENSP00000494583.1:n.990+30G>A
XM_011540719.1:c.990+30G>A	XP_011539021.1:n.990+30G>A
XM_011540721.1:c.-1439+30G>A	XP_011539023.1:n.-1439+30G>A
XM_017000334.1:c.1143+30G>A	XP_016855823.1:n.1143+30G>A
XM_017000335.1:c.1137+30G>A	XP_016855824.1:n.1137+30G>A
XM_017000336.1:c.1143+30G>A	XP_016855825.1:n.1143+30G>A
XR_946545.1:n.1388+30G>A