Canonical Allele Identifier: CA341160829
Gene: COL11A1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102914362G>C , CM000663.2:g.102914362G>C GRCh38
NC_000001.10:g.103379918G>C , CM000663.1:g.103379918G>C GRCh37
NC_000001.9:g.103152506G>C NCBI36
NG_008033.1:g.199135C>G
NG_008033.2:g.199135C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.3968C>G MANE Select ENSP00000359114.3:p.Pro1323Arg
ENST00000353414.8:c.3851C>G ENSP00000302551.6:p.Pro1284Arg
ENST00000358392.6:c.4004C>G ENSP00000351163.2:p.Pro1335Arg
ENST00000370096.7:c.3968C>G ENSP00000359114.3:p.Pro1323Arg
ENST00000512756.5:c.3620C>G ENSP00000426533.1:p.Pro1207Arg
ENST00000635193.1:c.3302C>G
NM_001190709.1:c.3851C>G NP_001177638.1:p.Pro1284Arg
NM_001854.3:c.3968C>G NP_001845.3:p.Pro1323Arg
NM_080629.2:c.4004C>G NP_542196.2:p.Pro1335Arg
NM_080630.3:c.3620C>G NP_542197.3:p.Pro1207Arg
XM_011540719.1:c.3968C>G XP_011539021.1:p.Pro1323Arg
XM_011540720.1:c.2201C>G XP_011539022.1:p.Pro734Arg
XM_011540721.1:c.1556C>G XP_011539023.1:p.Pro519Arg
NR_134980.1:n.4302C>G
XM_017000334.1:c.4121C>G XP_016855823.1:p.Pro1374Arg
XM_017000335.1:c.4115C>G XP_016855824.1:p.Pro1372Arg
XM_017000336.1:c.4121C>G XP_016855825.1:p.Pro1374Arg
XM_017000337.1:c.2519C>G XP_016855826.1:p.Pro840Arg
NM_001854.4:c.3968C>G MANE Select NP_001845.3:p.Pro1323Arg
NM_080630.4:c.3620C>G NP_542197.3:p.Pro1207Arg
NR_134980.2:n.4328C>G
NM_001190709.2:c.3851C>G NP_001177638.1:p.Pro1284Arg
NM_080629.3:c.4004C>G NP_542196.2:p.Pro1335Arg