Canonical Allele Identifier: CA341171465
Gene: COL11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102946952G>A , CM000663.2:g.102946952G>A GRCh38
NC_000001.10:g.103412508G>A , CM000663.1:g.103412508G>A GRCh37
NC_000001.9:g.103185096G>A NCBI36
NG_008033.1:g.166545C>T
NG_008033.2:g.166545C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3173C>T MANE Select ENSP00000359114.3:p.Ser1058Leu
ENST00000353414.8:c.3056C>T ENSP00000302551.6:p.Ser1019Leu
ENST00000358392.6:c.3209C>T ENSP00000351163.2:p.Ser1070Leu
ENST00000370096.7:c.3173C>T ENSP00000359114.3:p.Ser1058Leu
ENST00000512756.5:c.2825C>T ENSP00000426533.1:p.Ser942Leu
ENST00000635193.1:c.2507C>T
NM_001190709.1:c.3056C>T NP_001177638.1:p.Ser1019Leu
NM_001854.3:c.3173C>T NP_001845.3:p.Ser1058Leu
NM_080629.2:c.3209C>T NP_542196.2:p.Ser1070Leu
NM_080630.3:c.2825C>T NP_542197.3:p.Ser942Leu
XM_011540719.1:c.3173C>T XP_011539021.1:p.Ser1058Leu
XM_011540720.1:c.1406C>T XP_011539022.1:p.Ser469Leu
XM_011540721.1:c.761C>T XP_011539023.1:p.Ser254Leu
NR_134980.1:n.3507C>T
XM_017000334.1:c.3326C>T XP_016855823.1:p.Ser1109Leu
XM_017000335.1:c.3320C>T XP_016855824.1:p.Ser1107Leu
XM_017000336.1:c.3326C>T XP_016855825.1:p.Ser1109Leu
XM_017000337.1:c.1724C>T XP_016855826.1:p.Ser575Leu
NM_001854.4:c.3173C>T MANE Select NP_001845.3:p.Ser1058Leu
NM_080630.4:c.2825C>T NP_542197.3:p.Ser942Leu
NR_134980.2:n.3533C>T
NM_001190709.2:c.3056C>T NP_001177638.1:p.Ser1019Leu
NM_080629.3:c.3209C>T NP_542196.2:p.Ser1070Leu