Canonical Allele Identifier: CA973287

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102879726T>C , CM000663.2:g.102879726T>C	GRCh38
NC_000001.10:g.103345282T>C , CM000663.1:g.103345282T>C	GRCh37
NC_000001.9:g.103117870T>C	NCBI36
NG_008033.1:g.233771A>G
NG_008033.2:g.233771A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.5231A>G MANE Select	NP_001845.3:p.Tyr1744Cys
ENST00000370096.9:c.5231A>G MANE Select	ENSP00000359114.3:p.Tyr1744Cys
NM_001190709.1:c.5114A>G	NP_001177638.1:p.Tyr1705Cys
NM_001190709.2:c.5114A>G	NP_001177638.1:p.Tyr1705Cys
NM_001854.3:c.5231A>G	NP_001845.3:p.Tyr1744Cys
NM_080629.2:c.5267A>G	NP_542196.2:p.Tyr1756Cys
NM_080629.3:c.5267A>G	NP_542196.2:p.Tyr1756Cys
NM_080630.3:c.4883A>G	NP_542197.3:p.Tyr1628Cys
NM_080630.4:c.4883A>G	NP_542197.3:p.Tyr1628Cys
NR_134980.1:n.5565A>G
NR_134980.2:n.5591A>G
ENST00000353414.8:c.5114A>G	ENSP00000302551.6:p.Tyr1705Cys
ENST00000358392.6:c.5267A>G	ENSP00000351163.2:p.Tyr1756Cys
ENST00000370096.7:c.5231A>G	ENSP00000359114.3:p.Tyr1744Cys
ENST00000470170.1:n.293A>G
ENST00000512756.5:c.4883A>G	ENSP00000426533.1:p.Tyr1628Cys
ENST00000635193.1:c.4565A>G
ENST00000639098.1:n.604A>G
XM_011540720.1:c.3464A>G	XP_011539022.1:p.Tyr1155Cys
XM_011540721.1:c.2819A>G	XP_011539023.1:p.Tyr940Cys
XM_017000334.1:c.5384A>G	XP_016855823.1:p.Tyr1795Cys
XM_017000335.1:c.5378A>G	XP_016855824.1:p.Tyr1793Cys
XM_017000337.1:c.3782A>G	XP_016855826.1:p.Tyr1261Cys