Canonical Allele Identifier: CA419203665

Gene: COL11A1

Linked Data

• dbSNP Id: rs1419260636
• gnomAD v2: 1-103455125-A-C
• gnomAD v4: 1-102989569-A-C
• MyVariant Identifiers: chr1:g.103455125A>C (hg19) ; chr1:g.102989569A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102989569A>C , CM000663.2:g.102989569A>C	GRCh38
NC_000001.10:g.103455125A>C , CM000663.1:g.103455125A>C	GRCh37
NC_000001.9:g.103227713A>C	NCBI36
NG_008033.1:g.123928T>G
NG_008033.2:g.123928T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2343T>G MANE Select	ENSP00000359114.3:p.Gly781=
ENST00000353414.8:c.2226T>G	ENSP00000302551.6:p.Gly742=
ENST00000358392.6:c.2379T>G	ENSP00000351163.2:p.Gly793=
ENST00000370096.7:c.2343T>G	ENSP00000359114.3:p.Gly781=
ENST00000512756.5:c.1995T>G	ENSP00000426533.1:p.Gly665=
ENST00000635193.1:c.1661T>G
NM_001190709.1:c.2226T>G	NP_001177638.1:p.Gly742=
NM_001854.3:c.2343T>G	NP_001845.3:p.Gly781=
NM_080629.2:c.2379T>G	NP_542196.2:p.Gly793=
NM_080630.3:c.1995T>G	NP_542197.3:p.Gly665=
XM_011540719.1:c.2343T>G	XP_011539021.1:p.Gly781=
XM_011540720.1:c.576T>G	XP_011539022.1:p.Gly192=
XM_011540721.1:c.-86T>G	XP_011539023.1:n.-86T>G
XR_946545.1:n.2741T>G
NR_134980.1:n.2661T>G
XM_017000334.1:c.2496T>G	XP_016855823.1:p.Gly832=
XM_017000335.1:c.2490T>G	XP_016855824.1:p.Gly830=
XM_017000336.1:c.2496T>G	XP_016855825.1:p.Gly832=
XM_017000337.1:c.894T>G	XP_016855826.1:p.Gly298=
NM_001854.4:c.2343T>G MANE Select	NP_001845.3:p.Gly781=
NM_080630.4:c.1995T>G	NP_542197.3:p.Gly665=
NR_134980.2:n.2687T>G
NM_001190709.2:c.2226T>G	NP_001177638.1:p.Gly742=
NM_080629.3:c.2379T>G	NP_542196.2:p.Gly793=