Canonical Allele Identifier: CA419205367
Gene: COL11A1 HGNC NCBI

Linked Data

dbSNP Id: rs777043044
MyVariant Identifiers: chr1:g.103412411A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102946855A>G , CM000663.2:g.102946855A>G GRCh38
NC_000001.10:g.103412411A>G , CM000663.1:g.103412411A>G GRCh37
NC_000001.9:g.103184999A>G NCBI36
NG_008033.1:g.166642T>C
NG_008033.2:g.166642T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3270T>C MANE Select ENSP00000359114.3:p.Gly1090=
ENST00000353414.8:c.3153T>C ENSP00000302551.6:p.Gly1051=
ENST00000358392.6:c.3306T>C ENSP00000351163.2:p.Gly1102=
ENST00000370096.7:c.3270T>C ENSP00000359114.3:p.Gly1090=
ENST00000512756.5:c.2922T>C ENSP00000426533.1:p.Gly974=
ENST00000635193.1:c.2604T>C
NM_001190709.1:c.3153T>C NP_001177638.1:p.Gly1051=
NM_001854.3:c.3270T>C NP_001845.3:p.Gly1090=
NM_080629.2:c.3306T>C NP_542196.2:p.Gly1102=
NM_080630.3:c.2922T>C NP_542197.3:p.Gly974=
XM_011540719.1:c.3270T>C XP_011539021.1:p.Gly1090=
XM_011540720.1:c.1503T>C XP_011539022.1:p.Gly501=
XM_011540721.1:c.858T>C XP_011539023.1:p.Gly286=
NR_134980.1:n.3604T>C
XM_017000334.1:c.3423T>C XP_016855823.1:p.Gly1141=
XM_017000335.1:c.3417T>C XP_016855824.1:p.Gly1139=
XM_017000336.1:c.3423T>C XP_016855825.1:p.Gly1141=
XM_017000337.1:c.1821T>C XP_016855826.1:p.Gly607=
NM_001854.4:c.3270T>C MANE Select NP_001845.3:p.Gly1090=
NM_080630.4:c.2922T>C NP_542197.3:p.Gly974=
NR_134980.2:n.3630T>C
NM_001190709.2:c.3153T>C NP_001177638.1:p.Gly1051=
NM_080629.3:c.3306T>C NP_542196.2:p.Gly1102=