Canonical Allele Identifier: CA341163117
Gene: COL11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102978753C>T , CM000663.2:g.102978753C>T GRCh38
NC_000001.10:g.103444309C>T , CM000663.1:g.103444309C>T GRCh37
NC_000001.9:g.103216897C>T NCBI36
NG_008033.1:g.134744G>A
NG_008033.2:g.134744G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2710-1G>A MANE Select ENSP00000359114.3:n.2710-1G>A
ENST00000353414.8:c.2593-1G>A ENSP00000302551.6:n.2593-1G>A
ENST00000358392.6:c.2746-1G>A ENSP00000351163.2:n.2746-1G>A
ENST00000370096.7:c.2710-1G>A ENSP00000359114.3:n.2710-1G>A
ENST00000512756.5:c.2362-1G>A ENSP00000426533.1:n.2362-1G>A
ENST00000635193.1:c.2044-1G>A
NM_001190709.1:c.2593-1G>A NP_001177638.1:n.2593-1G>A
NM_001854.3:c.2710-1G>A NP_001845.3:n.2710-1G>A
NM_080629.2:c.2746-1G>A NP_542196.2:n.2746-1G>A
NM_080630.3:c.2362-1G>A NP_542197.3:n.2362-1G>A
XM_011540719.1:c.2710-1G>A XP_011539021.1:n.2710-1G>A
XM_011540720.1:c.943-1G>A XP_011539022.1:n.943-1G>A
XM_011540721.1:c.298-1G>A XP_011539023.1:n.298-1G>A
XR_946545.1:n.3124-1G>A
NR_134980.1:n.3044-1G>A
XM_017000334.1:c.2863-1G>A XP_016855823.1:n.2863-1G>A
XM_017000335.1:c.2857-1G>A XP_016855824.1:n.2857-1G>A
XM_017000336.1:c.2863-1G>A XP_016855825.1:n.2863-1G>A
XM_017000337.1:c.1261-1G>A XP_016855826.1:n.1261-1G>A
NM_001854.4:c.2710-1G>A MANE Select NP_001845.3:n.2710-1G>A
NM_080630.4:c.2362-1G>A NP_542197.3:n.2362-1G>A
NR_134980.2:n.3070-1G>A
NM_001190709.2:c.2593-1G>A NP_001177638.1:n.2593-1G>A
NM_080629.3:c.2746-1G>A NP_542196.2:n.2746-1G>A