Canonical Allele Identifier: CA341160834

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914362G>T , CM000663.2:g.102914362G>T	GRCh38
NC_000001.10:g.103379918G>T , CM000663.1:g.103379918G>T	GRCh37
NC_000001.9:g.103152506G>T	NCBI36
NG_008033.1:g.199135C>A
NG_008033.2:g.199135C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3968C>A MANE Select	ENSP00000359114.3:p.Pro1323His
ENST00000353414.8:c.3851C>A	ENSP00000302551.6:p.Pro1284His
ENST00000358392.6:c.4004C>A	ENSP00000351163.2:p.Pro1335His
ENST00000370096.7:c.3968C>A	ENSP00000359114.3:p.Pro1323His
ENST00000512756.5:c.3620C>A	ENSP00000426533.1:p.Pro1207His
ENST00000635193.1:c.3302C>A
NM_001190709.1:c.3851C>A	NP_001177638.1:p.Pro1284His
NM_001854.3:c.3968C>A	NP_001845.3:p.Pro1323His
NM_080629.2:c.4004C>A	NP_542196.2:p.Pro1335His
NM_080630.3:c.3620C>A	NP_542197.3:p.Pro1207His
XM_011540719.1:c.3968C>A	XP_011539021.1:p.Pro1323His
XM_011540720.1:c.2201C>A	XP_011539022.1:p.Pro734His
XM_011540721.1:c.1556C>A	XP_011539023.1:p.Pro519His
NR_134980.1:n.4302C>A
XM_017000334.1:c.4121C>A	XP_016855823.1:p.Pro1374His
XM_017000335.1:c.4115C>A	XP_016855824.1:p.Pro1372His
XM_017000336.1:c.4121C>A	XP_016855825.1:p.Pro1374His
XM_017000337.1:c.2519C>A	XP_016855826.1:p.Pro840His
NM_001854.4:c.3968C>A MANE Select	NP_001845.3:p.Pro1323His
NM_080630.4:c.3620C>A	NP_542197.3:p.Pro1207His
NR_134980.2:n.4328C>A
NM_001190709.2:c.3851C>A	NP_001177638.1:p.Pro1284His
NM_080629.3:c.4004C>A	NP_542196.2:p.Pro1335His