Canonical Allele Identifier: CA419203655

Gene: COL11A1

Linked Data

• gnomAD v4: 1-102989566-T-C
• MyVariant Identifiers: chr1:g.103455122T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102989566T>C , CM000663.2:g.102989566T>C	GRCh38
NC_000001.10:g.103455122T>C , CM000663.1:g.103455122T>C	GRCh37
NC_000001.9:g.103227710T>C	NCBI36
NG_008033.1:g.123931A>G
NG_008033.2:g.123931A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2346A>G MANE Select	ENSP00000359114.3:p.Glu782=
ENST00000353414.8:c.2229A>G	ENSP00000302551.6:p.Glu743=
ENST00000358392.6:c.2382A>G	ENSP00000351163.2:p.Glu794=
ENST00000370096.7:c.2346A>G	ENSP00000359114.3:p.Glu782=
ENST00000512756.5:c.1998A>G	ENSP00000426533.1:p.Glu666=
ENST00000635193.1:c.1664A>G
NM_001190709.1:c.2229A>G	NP_001177638.1:p.Glu743=
NM_001854.3:c.2346A>G	NP_001845.3:p.Glu782=
NM_080629.2:c.2382A>G	NP_542196.2:p.Glu794=
NM_080630.3:c.1998A>G	NP_542197.3:p.Glu666=
XM_011540719.1:c.2346A>G	XP_011539021.1:p.Glu782=
XM_011540720.1:c.579A>G	XP_011539022.1:p.Glu193=
XM_011540721.1:c.-83A>G	XP_011539023.1:n.-83A>G
XR_946545.1:n.2744A>G
NR_134980.1:n.2664A>G
XM_017000334.1:c.2499A>G	XP_016855823.1:p.Glu833=
XM_017000335.1:c.2493A>G	XP_016855824.1:p.Glu831=
XM_017000336.1:c.2499A>G	XP_016855825.1:p.Glu833=
XM_017000337.1:c.897A>G	XP_016855826.1:p.Glu299=
NM_001854.4:c.2346A>G MANE Select	NP_001845.3:p.Glu782=
NM_080630.4:c.1998A>G	NP_542197.3:p.Glu666=
NR_134980.2:n.2690A>G
NM_001190709.2:c.2229A>G	NP_001177638.1:p.Glu743=
NM_080629.3:c.2382A>G	NP_542196.2:p.Glu794=