Canonical Allele Identifier: CA419205837
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102998322A>T , CM000663.2:g.102998322A>T GRCh38
NC_000001.10:g.103463878A>T , CM000663.1:g.103463878A>T GRCh37
NC_000001.9:g.103236466A>T NCBI36
NG_008033.1:g.115175T>A
NG_008033.2:g.115175T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2184T>A MANE Select ENSP00000359114.3:p.Ala728=
ENST00000353414.8:c.2067T>A ENSP00000302551.6:p.Ala689=
ENST00000358392.6:c.2220T>A ENSP00000351163.2:p.Ala740=
ENST00000370096.7:c.2184T>A ENSP00000359114.3:p.Ala728=
ENST00000512756.5:c.1836T>A ENSP00000426533.1:p.Ala612=
ENST00000635193.1:c.1502T>A
NM_001190709.1:c.2067T>A NP_001177638.1:p.Ala689=
NM_001854.3:c.2184T>A NP_001845.3:p.Ala728=
NM_080629.2:c.2220T>A NP_542196.2:p.Ala740=
NM_080630.3:c.1836T>A NP_542197.3:p.Ala612=
XM_011540719.1:c.2184T>A XP_011539021.1:p.Ala728=
XM_011540720.1:c.417T>A XP_011539022.1:p.Ala139=
XM_011540721.1:c.-245T>A XP_011539023.1:n.-245T>A
XR_946545.1:n.2582T>A
NR_134980.1:n.2502T>A
XM_017000334.1:c.2337T>A XP_016855823.1:p.Ala779=
XM_017000335.1:c.2331T>A XP_016855824.1:p.Ala777=
XM_017000336.1:c.2337T>A XP_016855825.1:p.Ala779=
XM_017000337.1:c.735T>A XP_016855826.1:p.Ala245=
NM_001854.4:c.2184T>A MANE Select NP_001845.3:p.Ala728=
NM_080630.4:c.1836T>A NP_542197.3:p.Ala612=
NR_134980.2:n.2528T>A
NM_001190709.2:c.2067T>A NP_001177638.1:p.Ala689=
NM_080629.3:c.2220T>A NP_542196.2:p.Ala740=