Canonical Allele Identifier: CA341167188

Gene: COL11A1

Linked Data

• dbSNP Id: rs1413530833
• gnomAD v2: 1-103455124-C-T
• gnomAD v4: 1-102989568-C-T
• MyVariant Identifiers: chr1:g.103455124C>T (hg19) ; chr1:g.102989568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102989568C>T , CM000663.2:g.102989568C>T	GRCh38
NC_000001.10:g.103455124C>T , CM000663.1:g.103455124C>T	GRCh37
NC_000001.9:g.103227712C>T	NCBI36
NG_008033.1:g.123929G>A
NG_008033.2:g.123929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2344G>A MANE Select	ENSP00000359114.3:p.Glu782Lys
ENST00000353414.8:c.2227G>A	ENSP00000302551.6:p.Glu743Lys
ENST00000358392.6:c.2380G>A	ENSP00000351163.2:p.Glu794Lys
ENST00000370096.7:c.2344G>A	ENSP00000359114.3:p.Glu782Lys
ENST00000512756.5:c.1996G>A	ENSP00000426533.1:p.Glu666Lys
ENST00000635193.1:c.1662G>A
NM_001190709.1:c.2227G>A	NP_001177638.1:p.Glu743Lys
NM_001854.3:c.2344G>A	NP_001845.3:p.Glu782Lys
NM_080629.2:c.2380G>A	NP_542196.2:p.Glu794Lys
NM_080630.3:c.1996G>A	NP_542197.3:p.Glu666Lys
XM_011540719.1:c.2344G>A	XP_011539021.1:p.Glu782Lys
XM_011540720.1:c.577G>A	XP_011539022.1:p.Glu193Lys
XM_011540721.1:c.-85G>A	XP_011539023.1:n.-85G>A
XR_946545.1:n.2742G>A
NR_134980.1:n.2662G>A
XM_017000334.1:c.2497G>A	XP_016855823.1:p.Glu833Lys
XM_017000335.1:c.2491G>A	XP_016855824.1:p.Glu831Lys
XM_017000336.1:c.2497G>A	XP_016855825.1:p.Glu833Lys
XM_017000337.1:c.895G>A	XP_016855826.1:p.Glu299Lys
NM_001854.4:c.2344G>A MANE Select	NP_001845.3:p.Glu782Lys
NM_080630.4:c.1996G>A	NP_542197.3:p.Glu666Lys
NR_134980.2:n.2688G>A
NM_001190709.2:c.2227G>A	NP_001177638.1:p.Glu743Lys
NM_080629.3:c.2380G>A	NP_542196.2:p.Glu794Lys