Canonical Allele Identifier: CA419205533

Gene: COL11A1

Linked Data

• dbSNP Id: rs904614699
• gnomAD v2: 1-103412483-A-T
• gnomAD v4: 1-102946927-A-T
• MyVariant Identifiers: chr1:g.103412483A>T (hg19) ; chr1:g.102946927A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946927A>T , CM000663.2:g.102946927A>T	GRCh38
NC_000001.10:g.103412483A>T , CM000663.1:g.103412483A>T	GRCh37
NC_000001.9:g.103185071A>T	NCBI36
NG_008033.1:g.166570T>A
NG_008033.2:g.166570T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3198T>A MANE Select	ENSP00000359114.3:p.Gly1066=
ENST00000353414.8:c.3081T>A	ENSP00000302551.6:p.Gly1027=
ENST00000358392.6:c.3234T>A	ENSP00000351163.2:p.Gly1078=
ENST00000370096.7:c.3198T>A	ENSP00000359114.3:p.Gly1066=
ENST00000512756.5:c.2850T>A	ENSP00000426533.1:p.Gly950=
ENST00000635193.1:c.2532T>A
NM_001190709.1:c.3081T>A	NP_001177638.1:p.Gly1027=
NM_001854.3:c.3198T>A	NP_001845.3:p.Gly1066=
NM_080629.2:c.3234T>A	NP_542196.2:p.Gly1078=
NM_080630.3:c.2850T>A	NP_542197.3:p.Gly950=
XM_011540719.1:c.3198T>A	XP_011539021.1:p.Gly1066=
XM_011540720.1:c.1431T>A	XP_011539022.1:p.Gly477=
XM_011540721.1:c.786T>A	XP_011539023.1:p.Gly262=
NR_134980.1:n.3532T>A
XM_017000334.1:c.3351T>A	XP_016855823.1:p.Gly1117=
XM_017000335.1:c.3345T>A	XP_016855824.1:p.Gly1115=
XM_017000336.1:c.3351T>A	XP_016855825.1:p.Gly1117=
XM_017000337.1:c.1749T>A	XP_016855826.1:p.Gly583=
NM_001854.4:c.3198T>A MANE Select	NP_001845.3:p.Gly1066=
NM_080630.4:c.2850T>A	NP_542197.3:p.Gly950=
NR_134980.2:n.3558T>A
NM_001190709.2:c.3081T>A	NP_001177638.1:p.Gly1027=
NM_080629.3:c.3234T>A	NP_542196.2:p.Gly1078=