Canonical Allele Identifier: CA10606524
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102888722C>G , CM000663.2:g.102888722C>G GRCh38
NC_000001.10:g.103354278C>G , CM000663.1:g.103354278C>G GRCh37
NC_000001.9:g.103126866C>G NCBI36
NG_008033.1:g.224775G>C
NG_008033.2:g.224775G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.4554+1G>C MANE Select ENSP00000359114.3:n.4554+1G>C
ENST00000353414.8:c.4437+1G>C ENSP00000302551.6:n.4437+1G>C
ENST00000358392.6:c.4590+1G>C ENSP00000351163.2:n.4590+1G>C
ENST00000370096.7:c.4554+1G>C ENSP00000359114.3:n.4554+1G>C
ENST00000512756.5:c.4206+1G>C ENSP00000426533.1:n.4206+1G>C
ENST00000635193.1:c.3888+1G>C
NM_001190709.1:c.4437+1G>C NP_001177638.1:n.4437+1G>C
NM_001854.3:c.4554+1G>C NP_001845.3:n.4554+1G>C
NM_080629.2:c.4590+1G>C NP_542196.2:n.4590+1G>C
NM_080630.3:c.4206+1G>C NP_542197.3:n.4206+1G>C
XM_011540720.1:c.2787+1G>C XP_011539022.1:n.2787+1G>C
XM_011540721.1:c.2142+1G>C XP_011539023.1:n.2142+1G>C
NR_134980.1:n.4888+1G>C
XM_017000334.1:c.4707+1G>C XP_016855823.1:n.4707+1G>C
XM_017000335.1:c.4701+1G>C XP_016855824.1:n.4701+1G>C
XM_017000337.1:c.3105+1G>C XP_016855826.1:n.3105+1G>C
NM_001854.4:c.4554+1G>C MANE Select NP_001845.3:n.4554+1G>C
NM_080630.4:c.4206+1G>C NP_542197.3:n.4206+1G>C
NR_134980.2:n.4914+1G>C
NM_001190709.2:c.4437+1G>C NP_001177638.1:n.4437+1G>C
NM_080629.3:c.4590+1G>C NP_542196.2:n.4590+1G>C