Canonical Allele Identifier: CA341171454
Gene: COL11A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102946949G>C , CM000663.2:g.102946949G>C GRCh38
NC_000001.10:g.103412505G>C , CM000663.1:g.103412505G>C GRCh37
NC_000001.9:g.103185093G>C NCBI36
NG_008033.1:g.166548C>G
NG_008033.2:g.166548C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3176C>G MANE Select ENSP00000359114.3:p.Pro1059Arg
ENST00000353414.8:c.3059C>G ENSP00000302551.6:p.Pro1020Arg
ENST00000358392.6:c.3212C>G ENSP00000351163.2:p.Pro1071Arg
ENST00000370096.7:c.3176C>G ENSP00000359114.3:p.Pro1059Arg
ENST00000512756.5:c.2828C>G ENSP00000426533.1:p.Pro943Arg
ENST00000635193.1:c.2510C>G
NM_001190709.1:c.3059C>G NP_001177638.1:p.Pro1020Arg
NM_001854.3:c.3176C>G NP_001845.3:p.Pro1059Arg
NM_080629.2:c.3212C>G NP_542196.2:p.Pro1071Arg
NM_080630.3:c.2828C>G NP_542197.3:p.Pro943Arg
XM_011540719.1:c.3176C>G XP_011539021.1:p.Pro1059Arg
XM_011540720.1:c.1409C>G XP_011539022.1:p.Pro470Arg
XM_011540721.1:c.764C>G XP_011539023.1:p.Pro255Arg
NR_134980.1:n.3510C>G
XM_017000334.1:c.3329C>G XP_016855823.1:p.Pro1110Arg
XM_017000335.1:c.3323C>G XP_016855824.1:p.Pro1108Arg
XM_017000336.1:c.3329C>G XP_016855825.1:p.Pro1110Arg
XM_017000337.1:c.1727C>G XP_016855826.1:p.Pro576Arg
NM_001854.4:c.3176C>G MANE Select NP_001845.3:p.Pro1059Arg
NM_080630.4:c.2828C>G NP_542197.3:p.Pro943Arg
NR_134980.2:n.3536C>G
NM_001190709.2:c.3059C>G NP_001177638.1:p.Pro1020Arg
NM_080629.3:c.3212C>G NP_542196.2:p.Pro1071Arg