Canonical Allele Identifier: CA10607201
Gene: COL11A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 291484
dbSNP Id: rs74108029

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102877387C>T , CM000663.2:g.102877387C>T GRCh38
NC_000001.10:g.103342943C>T , CM000663.1:g.103342943C>T GRCh37
NC_000001.9:g.103115531C>T NCBI36
NG_008033.1:g.236110G>A
NG_008033.2:g.236110G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.*632G>A MANE Select ENSP00000359114.3:n.*632G>A
ENST00000353414.8:c.*632G>A ENSP00000302551.6:n.*632G>A
ENST00000358392.6:c.*632G>A ENSP00000351163.2:n.*632G>A
ENST00000370096.7:c.*632G>A ENSP00000359114.3:n.*632G>A
NM_001190709.1:c.*632G>A NP_001177638.1:n.*632G>A
NM_001854.3:c.*632G>A NP_001845.3:n.*632G>A
NM_080629.2:c.*632G>A NP_542196.2:n.*632G>A
NM_080630.3:c.*632G>A NP_542197.3:n.*632G>A
XM_011540720.1:c.*632G>A XP_011539022.1:n.*632G>A
XM_011540721.1:c.*632G>A XP_011539023.1:n.*632G>A
NR_134980.1:n.6387G>A
XM_017000334.1:c.*632G>A XP_016855823.1:n.*632G>A
NM_001854.4:c.*632G>A MANE Select NP_001845.3:n.*632G>A
NM_080630.4:c.*632G>A NP_542197.3:n.*632G>A
NR_134980.2:n.6413G>A
NM_001190709.2:c.*632G>A NP_001177638.1:n.*632G>A
NM_080629.3:c.*632G>A NP_542196.2:n.*632G>A