Canonical Allele Identifier: CA973632

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102898701C>T , CM000663.2:g.102898701C>T	GRCh38
NC_000001.10:g.103364257C>T , CM000663.1:g.103364257C>T	GRCh37
NC_000001.9:g.103136845C>T	NCBI36
NG_008033.1:g.214796G>A
NG_008033.2:g.214796G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.4213G>A MANE Select	NP_001845.3:p.Gly1405Ser
ENST00000370096.9:c.4213G>A MANE Select	ENSP00000359114.3:p.Gly1405Ser
NM_001190709.1:c.4096G>A	NP_001177638.1:p.Gly1366Ser
NM_001190709.2:c.4096G>A	NP_001177638.1:p.Gly1366Ser
NM_001854.3:c.4213G>A	NP_001845.3:p.Gly1405Ser
NM_080629.2:c.4249G>A	NP_542196.2:p.Gly1417Ser
NM_080629.3:c.4249G>A	NP_542196.2:p.Gly1417Ser
NM_080630.3:c.3865G>A	NP_542197.3:p.Gly1289Ser
NM_080630.4:c.3865G>A	NP_542197.3:p.Gly1289Ser
NR_134980.1:n.4547G>A
NR_134980.2:n.4573G>A
ENST00000353414.8:c.4096G>A	ENSP00000302551.6:p.Gly1366Ser
ENST00000358392.6:c.4249G>A	ENSP00000351163.2:p.Gly1417Ser
ENST00000370096.7:c.4213G>A	ENSP00000359114.3:p.Gly1405Ser
ENST00000512756.5:c.3865G>A	ENSP00000426533.1:p.Gly1289Ser
ENST00000635193.1:c.3547G>A
XM_011540719.1:c.4213G>A	XP_011539021.1:p.Gly1405Ser
XM_011540720.1:c.2446G>A	XP_011539022.1:p.Gly816Ser
XM_011540721.1:c.1801G>A	XP_011539023.1:p.Gly601Ser
XM_017000334.1:c.4366G>A	XP_016855823.1:p.Gly1456Ser
XM_017000335.1:c.4360G>A	XP_016855824.1:p.Gly1454Ser
XM_017000336.1:c.4366G>A	XP_016855825.1:p.Gly1456Ser
XM_017000337.1:c.2764G>A	XP_016855826.1:p.Gly922Ser