Canonical Allele Identifier: CA419205503
Gene: COL11A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.103412464A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102946908A>G , CM000663.2:g.102946908A>G GRCh38
NC_000001.10:g.103412464A>G , CM000663.1:g.103412464A>G GRCh37
NC_000001.9:g.103185052A>G NCBI36
NG_008033.1:g.166589T>C
NG_008033.2:g.166589T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3217T>C MANE Select ENSP00000359114.3:p.Leu1073=
ENST00000353414.8:c.3100T>C ENSP00000302551.6:p.Leu1034=
ENST00000358392.6:c.3253T>C ENSP00000351163.2:p.Leu1085=
ENST00000370096.7:c.3217T>C ENSP00000359114.3:p.Leu1073=
ENST00000512756.5:c.2869T>C ENSP00000426533.1:p.Leu957=
ENST00000635193.1:c.2551T>C
NM_001190709.1:c.3100T>C NP_001177638.1:p.Leu1034=
NM_001854.3:c.3217T>C NP_001845.3:p.Leu1073=
NM_080629.2:c.3253T>C NP_542196.2:p.Leu1085=
NM_080630.3:c.2869T>C NP_542197.3:p.Leu957=
XM_011540719.1:c.3217T>C XP_011539021.1:p.Leu1073=
XM_011540720.1:c.1450T>C XP_011539022.1:p.Leu484=
XM_011540721.1:c.805T>C XP_011539023.1:p.Leu269=
NR_134980.1:n.3551T>C
XM_017000334.1:c.3370T>C XP_016855823.1:p.Leu1124=
XM_017000335.1:c.3364T>C XP_016855824.1:p.Leu1122=
XM_017000336.1:c.3370T>C XP_016855825.1:p.Leu1124=
XM_017000337.1:c.1768T>C XP_016855826.1:p.Leu590=
NM_001854.4:c.3217T>C MANE Select NP_001845.3:p.Leu1073=
NM_080630.4:c.2869T>C NP_542197.3:p.Leu957=
NR_134980.2:n.3577T>C
NM_001190709.2:c.3100T>C NP_001177638.1:p.Leu1034=
NM_080629.3:c.3253T>C NP_542196.2:p.Leu1085=