Canonical Allele Identifier: CA341170939

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102946869-C-T
• MyVariant Identifiers: chr1:g.103412425C>T (hg19) ; chr1:g.102946869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946869C>T , CM000663.2:g.102946869C>T	GRCh38
NC_000001.10:g.103412425C>T , CM000663.1:g.103412425C>T	GRCh37
NC_000001.9:g.103185013C>T	NCBI36
NG_008033.1:g.166628G>A
NG_008033.2:g.166628G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3256G>A MANE Select	ENSP00000359114.3:p.Ala1086Thr
ENST00000353414.8:c.3139G>A	ENSP00000302551.6:p.Ala1047Thr
ENST00000358392.6:c.3292G>A	ENSP00000351163.2:p.Ala1098Thr
ENST00000370096.7:c.3256G>A	ENSP00000359114.3:p.Ala1086Thr
ENST00000512756.5:c.2908G>A	ENSP00000426533.1:p.Ala970Thr
ENST00000635193.1:c.2590G>A
NM_001190709.1:c.3139G>A	NP_001177638.1:p.Ala1047Thr
NM_001854.3:c.3256G>A	NP_001845.3:p.Ala1086Thr
NM_080629.2:c.3292G>A	NP_542196.2:p.Ala1098Thr
NM_080630.3:c.2908G>A	NP_542197.3:p.Ala970Thr
XM_011540719.1:c.3256G>A	XP_011539021.1:p.Ala1086Thr
XM_011540720.1:c.1489G>A	XP_011539022.1:p.Ala497Thr
XM_011540721.1:c.844G>A	XP_011539023.1:p.Ala282Thr
NR_134980.1:n.3590G>A
XM_017000334.1:c.3409G>A	XP_016855823.1:p.Ala1137Thr
XM_017000335.1:c.3403G>A	XP_016855824.1:p.Ala1135Thr
XM_017000336.1:c.3409G>A	XP_016855825.1:p.Ala1137Thr
XM_017000337.1:c.1807G>A	XP_016855826.1:p.Ala603Thr
NM_001854.4:c.3256G>A MANE Select	NP_001845.3:p.Ala1086Thr
NM_080630.4:c.2908G>A	NP_542197.3:p.Ala970Thr
NR_134980.2:n.3616G>A
NM_001190709.2:c.3139G>A	NP_001177638.1:p.Ala1047Thr
NM_080629.3:c.3292G>A	NP_542196.2:p.Ala1098Thr