Canonical Allele Identifier: CA419205399
Gene: COL11A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.103412423A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102946867A>T , CM000663.2:g.102946867A>T GRCh38
NC_000001.10:g.103412423A>T , CM000663.1:g.103412423A>T GRCh37
NC_000001.9:g.103185011A>T NCBI36
NG_008033.1:g.166630T>A
NG_008033.2:g.166630T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3258T>A MANE Select ENSP00000359114.3:p.Ala1086=
ENST00000353414.8:c.3141T>A ENSP00000302551.6:p.Ala1047=
ENST00000358392.6:c.3294T>A ENSP00000351163.2:p.Ala1098=
ENST00000370096.7:c.3258T>A ENSP00000359114.3:p.Ala1086=
ENST00000512756.5:c.2910T>A ENSP00000426533.1:p.Ala970=
ENST00000635193.1:c.2592T>A
NM_001190709.1:c.3141T>A NP_001177638.1:p.Ala1047=
NM_001854.3:c.3258T>A NP_001845.3:p.Ala1086=
NM_080629.2:c.3294T>A NP_542196.2:p.Ala1098=
NM_080630.3:c.2910T>A NP_542197.3:p.Ala970=
XM_011540719.1:c.3258T>A XP_011539021.1:p.Ala1086=
XM_011540720.1:c.1491T>A XP_011539022.1:p.Ala497=
XM_011540721.1:c.846T>A XP_011539023.1:p.Ala282=
NR_134980.1:n.3592T>A
XM_017000334.1:c.3411T>A XP_016855823.1:p.Ala1137=
XM_017000335.1:c.3405T>A XP_016855824.1:p.Ala1135=
XM_017000336.1:c.3411T>A XP_016855825.1:p.Ala1137=
XM_017000337.1:c.1809T>A XP_016855826.1:p.Ala603=
NM_001854.4:c.3258T>A MANE Select NP_001845.3:p.Ala1086=
NM_080630.4:c.2910T>A NP_542197.3:p.Ala970=
NR_134980.2:n.3618T>A
NM_001190709.2:c.3141T>A NP_001177638.1:p.Ala1047=
NM_080629.3:c.3294T>A NP_542196.2:p.Ala1098=