Canonical Allele Identifier: CA16621570
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424907
dbSNP Id: rs1064797115

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.103031245C>G , CM000663.2:g.103031245C>G GRCh38
NC_000001.10:g.103496801C>G , CM000663.1:g.103496801C>G GRCh37
NC_000001.9:g.103269389C>G NCBI36
NG_008033.1:g.82252G>C
NG_008033.2:g.82252G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370096.9:c.652-1G>C MANE Select ENSP00000359114.3:n.652-1G>C
ENST00000461720.6:c.652-1G>C ENSP00000494909.1:n.652-1G>C
ENST00000644186.1:c.652-1G>C ENSP00000493821.1:n.652-1G>C
ENST00000645458.1:c.652-1G>C ENSP00000494179.1:n.652-1G>C
ENST00000647280.1:c.652-1G>C ENSP00000494583.1:n.652-1G>C
ENST00000353414.8:c.652-1G>C ENSP00000302551.6:n.652-1G>C
ENST00000358392.6:c.652-1G>C ENSP00000351163.2:n.652-1G>C
ENST00000370096.7:c.652-1G>C ENSP00000359114.3:n.652-1G>C
ENST00000427239.5:c.652-1G>C ENSP00000408640.1:n.652-1G>C
ENST00000447608.1:c.433-1G>C ENSP00000410177.1:n.433-1G>C
ENST00000512756.5:c.652-1G>C ENSP00000426533.1:n.652-1G>C
NM_001190709.1:c.652-1G>C NP_001177638.1:n.652-1G>C
NM_001854.3:c.652-1G>C NP_001845.3:n.652-1G>C
NM_080629.2:c.652-1G>C NP_542196.2:n.652-1G>C
NM_080630.3:c.652-1G>C NP_542197.3:n.652-1G>C
XM_011540719.1:c.652-1G>C XP_011539021.1:n.652-1G>C
XR_946545.1:n.1050-1G>C
NR_134980.1:n.970-1G>C
XM_017000334.1:c.652-1G>C XP_016855823.1:n.652-1G>C
XM_017000335.1:c.652-1G>C XP_016855824.1:n.652-1G>C
XM_017000336.1:c.652-1G>C XP_016855825.1:n.652-1G>C
NM_001854.4:c.652-1G>C MANE Select NP_001845.3:n.652-1G>C
NM_080630.4:c.652-1G>C NP_542197.3:n.652-1G>C
NR_134980.2:n.996-1G>C
NM_001190709.2:c.652-1G>C NP_001177638.1:n.652-1G>C
NM_080629.3:c.652-1G>C NP_542196.2:n.652-1G>C