Canonical Allele Identifier: CA341155512

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025549G>T , CM000663.2:g.103025549G>T	GRCh38
NC_000001.10:g.103491105G>T , CM000663.1:g.103491105G>T	GRCh37
NC_000001.9:g.103263693G>T	NCBI36
NG_008033.1:g.87948C>A
NG_008033.2:g.87948C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.962C>A MANE Select	NP_001845.3:p.Ala321Asp
ENST00000370096.9:c.962C>A MANE Select	ENSP00000359114.3:p.Ala321Asp
NM_001190709.1:c.845C>A	NP_001177638.1:p.Ala282Asp
NM_001190709.2:c.845C>A	NP_001177638.1:p.Ala282Asp
NM_001854.3:c.962C>A	NP_001845.3:p.Ala321Asp
NM_080629.2:c.998C>A	NP_542196.2:p.Ala333Asp
NM_080629.3:c.998C>A	NP_542196.2:p.Ala333Asp
NM_080630.3:c.897+667C>A	NP_542197.3:n.897+667C>A
NM_080630.4:c.897+667C>A	NP_542197.3:n.897+667C>A
NR_134980.1:n.1280C>A
NR_134980.2:n.1306C>A
ENST00000353414.8:c.845C>A	ENSP00000302551.6:p.Ala282Asp
ENST00000358392.6:c.998C>A	ENSP00000351163.2:p.Ala333Asp
ENST00000370096.7:c.962C>A	ENSP00000359114.3:p.Ala321Asp
ENST00000427239.5:c.998C>A	ENSP00000408640.1:p.Ala333Asp
ENST00000461720.6:c.1115C>A	ENSP00000494909.1:p.Ala372Asp
ENST00000512756.5:c.897+667C>A	ENSP00000426533.1:n.897+667C>A
ENST00000635193.1:c.280C>A
ENST00000644186.1:c.962C>A	ENSP00000493821.1:p.Ala321Asp
ENST00000645458.1:c.962C>A	ENSP00000494179.1:p.Ala321Asp
ENST00000647280.1:c.962C>A	ENSP00000494583.1:p.Ala321Asp
XM_011540719.1:c.962C>A	XP_011539021.1:p.Ala321Asp
XM_011540721.1:c.-1467C>A	XP_011539023.1:n.-1467C>A
XM_017000334.1:c.1115C>A	XP_016855823.1:p.Ala372Asp
XM_017000335.1:c.1109C>A	XP_016855824.1:p.Ala370Asp
XM_017000336.1:c.1115C>A	XP_016855825.1:p.Ala372Asp
XR_946545.1:n.1360C>A