Canonical Allele Identifier: CA973552

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102889531G>T , CM000663.2:g.102889531G>T	GRCh38
NC_000001.10:g.103355087G>T , CM000663.1:g.103355087G>T	GRCh37
NC_000001.9:g.103127675G>T	NCBI36
NG_008033.1:g.223966C>A
NG_008033.2:g.223966C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.4388C>A MANE Select	NP_001845.3:p.Pro1463His
ENST00000370096.9:c.4388C>A MANE Select	ENSP00000359114.3:p.Pro1463His
NM_001190709.1:c.4271C>A	NP_001177638.1:p.Pro1424His
NM_001190709.2:c.4271C>A	NP_001177638.1:p.Pro1424His
NM_001854.3:c.4388C>A	NP_001845.3:p.Pro1463His
NM_080629.2:c.4424C>A	NP_542196.2:p.Pro1475His
NM_080629.3:c.4424C>A	NP_542196.2:p.Pro1475His
NM_080630.3:c.4040C>A	NP_542197.3:p.Pro1347His
NM_080630.4:c.4040C>A	NP_542197.3:p.Pro1347His
NR_134980.1:n.4722C>A
NR_134980.2:n.4748C>A
ENST00000353414.8:c.4271C>A	ENSP00000302551.6:p.Pro1424His
ENST00000358392.6:c.4424C>A	ENSP00000351163.2:p.Pro1475His
ENST00000370096.7:c.4388C>A	ENSP00000359114.3:p.Pro1463His
ENST00000512756.5:c.4040C>A	ENSP00000426533.1:p.Pro1347His
ENST00000635193.1:c.3722C>A
XM_011540720.1:c.2621C>A	XP_011539022.1:p.Pro874His
XM_011540721.1:c.1976C>A	XP_011539023.1:p.Pro659His
XM_017000334.1:c.4541C>A	XP_016855823.1:p.Pro1514His
XM_017000335.1:c.4535C>A	XP_016855824.1:p.Pro1512His
XM_017000337.1:c.2939C>A	XP_016855826.1:p.Pro980His