Canonical Allele Identifier: CA341170153
Gene: COL11A1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102998317C>G , CM000663.2:g.102998317C>G GRCh38
NC_000001.10:g.103463873C>G , CM000663.1:g.103463873C>G GRCh37
NC_000001.9:g.103236461C>G NCBI36
NG_008033.1:g.115180G>C
NG_008033.2:g.115180G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2189G>C MANE Select ENSP00000359114.3:p.Gly730Ala
ENST00000353414.8:c.2072G>C ENSP00000302551.6:p.Gly691Ala
ENST00000358392.6:c.2225G>C ENSP00000351163.2:p.Gly742Ala
ENST00000370096.7:c.2189G>C ENSP00000359114.3:p.Gly730Ala
ENST00000512756.5:c.1841G>C ENSP00000426533.1:p.Gly614Ala
ENST00000635193.1:c.1507G>C
NM_001190709.1:c.2072G>C NP_001177638.1:p.Gly691Ala
NM_001854.3:c.2189G>C NP_001845.3:p.Gly730Ala
NM_080629.2:c.2225G>C NP_542196.2:p.Gly742Ala
NM_080630.3:c.1841G>C NP_542197.3:p.Gly614Ala
XM_011540719.1:c.2189G>C XP_011539021.1:p.Gly730Ala
XM_011540720.1:c.422G>C XP_011539022.1:p.Gly141Ala
XM_011540721.1:c.-240G>C XP_011539023.1:n.-240G>C
XR_946545.1:n.2587G>C
NR_134980.1:n.2507G>C
XM_017000334.1:c.2342G>C XP_016855823.1:p.Gly781Ala
XM_017000335.1:c.2336G>C XP_016855824.1:p.Gly779Ala
XM_017000336.1:c.2342G>C XP_016855825.1:p.Gly781Ala
XM_017000337.1:c.740G>C XP_016855826.1:p.Gly247Ala
NM_001854.4:c.2189G>C MANE Select NP_001845.3:p.Gly730Ala
NM_080630.4:c.1841G>C NP_542197.3:p.Gly614Ala
NR_134980.2:n.2533G>C
NM_001190709.2:c.2072G>C NP_001177638.1:p.Gly691Ala
NM_080629.3:c.2225G>C NP_542196.2:p.Gly742Ala