Canonical Allele Identifier: CA5534259
Community Standard Title: NM_001368882.1(COL13A1):c.567C>A (p.Asp189Glu)
Gene: COL13A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69888321C>A , CM000672.2:g.69888321C>A GRCh38
NC_000010.10:g.71648077C>A , CM000672.1:g.71648077C>A GRCh37
NC_000010.9:g.71318083C>A NCBI36
NG_046344.1:g.91434C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001368882.1:c.567C>A MANE Select NP_001355811.1:p.Asp189Glu
ENST00000645393.2:c.567C>A MANE Select ENSP00000496051.1:p.Asp189Glu
NM_001130103.1:c.540C>A NP_001123575.1:p.Asp180Glu
NM_001130103.2:c.540C>A NP_001123575.1:p.Asp180Glu
NM_001320951.1:c.567C>A NP_001307880.1:p.Asp189Glu
NM_001320951.2:c.567C>A NP_001307880.1:p.Asp189Glu
NM_001368883.1:c.531C>A NP_001355812.1:p.Asp177Glu
NM_001368884.1:c.567C>A NP_001355813.1:p.Asp189Glu
NM_001368885.1:c.531C>A NP_001355814.1:p.Asp177Glu
NM_001368886.1:c.-34C>A NP_001355815.1:n.-34C>A
NM_001368895.1:c.477C>A NP_001355824.1:p.Asp159Glu
NM_001368896.1:c.426C>A NP_001355825.1:p.Asp142Glu
NM_001368897.1:c.453C>A NP_001355826.1:p.Asp151Glu
NM_001368898.1:c.426C>A NP_001355827.1:p.Asp142Glu
NM_080798.3:c.426C>A NP_542988.3:p.Asp142Glu
NM_080798.4:c.426C>A NP_542988.3:p.Asp142Glu
NM_080800.3:c.540C>A NP_542990.3:p.Asp180Glu
NM_080800.4:c.540C>A NP_542990.3:p.Asp180Glu
NM_080801.3:c.540C>A NP_542991.3:p.Asp180Glu
NM_080801.4:c.540C>A NP_542991.3:p.Asp180Glu
NM_080802.3:c.540C>A NP_542992.3:p.Asp180Glu
NM_080802.4:c.540C>A NP_542992.3:p.Asp180Glu
NM_080805.3:c.453C>A NP_542995.3:p.Asp151Glu
NM_080805.4:c.453C>A NP_542995.3:p.Asp151Glu
ENST00000354547.7:c.540C>A ENSP00000346553.3:p.Asp180Glu
ENST00000357811.7:c.540C>A ENSP00000350463.3:p.Asp180Glu
ENST00000357811.8:c.531C>A ENSP00000350463.4:p.Asp177Glu
ENST00000398969.7:c.417C>A ENSP00000381941.4:p.Asp139Glu
ENST00000398969.8:c.656C>A ENSP00000381941.5:p.Thr219Lys
ENST00000398978.7:c.540C>A ENSP00000381949.3:p.Asp180Glu
ENST00000398978.8:c.540C>A ENSP00000381949.3:p.Asp180Glu
ENST00000479733.5:c.567C>A ENSP00000430089.1:p.Asp189Glu
ENST00000517713.5:c.540C>A ENSP00000430061.1:p.Asp180Glu
ENST00000520133.5:c.453C>A ENSP00000430173.1:p.Asp151Glu
ENST00000520267.5:c.426C>A ENSP00000428057.1:p.Asp142Glu
ENST00000522165.5:c.540C>A ENSP00000428342.1:p.Asp180Glu
ENST00000673628.1:c.422C>A
ENST00000673628.2:c.531C>A ENSP00000501050.2:p.Asp177Glu
ENST00000673641.1:c.347C>A
ENST00000673641.2:c.531C>A ENSP00000501125.2:p.Asp177Glu
ENST00000673755.1:n.194C>A
ENST00000673802.1:c.269C>A
ENST00000673802.2:c.453C>A ENSP00000501147.2:p.Asp151Glu
ENST00000673842.1:c.480C>A ENSP00000501058.1:p.Asp160Glu
ENST00000673914.1:c.343C>A
ENST00000673914.2:c.426C>A ENSP00000501202.2:p.Asp142Glu
ENST00000673957.1:c.320C>A
ENST00000673957.2:c.531C>A ENSP00000500966.2:p.Asp177Glu
ENST00000674008.1:c.583C>A
ENST00000674008.2:c.620C>A ENSP00000501091.2:p.Thr207Lys
ENST00000674040.1:c.537C>A
ENST00000674040.2:c.620C>A ENSP00000501131.2:p.Thr207Lys
ENST00000674121.1:c.426C>A ENSP00000501084.1:p.Asp142Glu
ENST00000674124.2:c.221C>A ENSP00000501072.2:p.Thr74Lys
ENST00000682679.1:c.656C>A ENSP00000507571.1:p.Thr219Lys
ENST00000683194.1:n.54C>A
ENST00000683667.1:n.54C>A
ENST00000684309.1:n.54C>A
ENST00000684387.1:n.248C>A
XM_011539292.1:c.567C>A XP_011537594.1:p.Asp189Glu
XM_011539292.3:c.567C>A XP_011537594.1:p.Asp189Glu
XM_011539293.1:c.567C>A XP_011537595.1:p.Asp189Glu
XM_011539293.3:c.567C>A XP_011537595.1:p.Asp189Glu
XM_011539294.1:c.567C>A XP_011537596.1:p.Asp189Glu
XM_011539294.3:c.567C>A XP_011537596.1:p.Asp189Glu
XM_011539295.1:c.567C>A XP_011537597.1:p.Asp189Glu
XM_011539295.3:c.567C>A XP_011537597.1:p.Asp189Glu
XM_011539296.1:c.567C>A XP_011537598.1:p.Asp189Glu
XM_017015676.2:c.567C>A XP_016871165.1:p.Asp189Glu
XM_017015677.2:c.567C>A XP_016871166.1:p.Asp189Glu
XM_017015679.2:c.567C>A XP_016871168.1:p.Asp189Glu
XM_017015680.2:c.567C>A XP_016871169.1:p.Asp189Glu
XM_017015681.2:c.567C>A XP_016871170.1:p.Asp189Glu
XM_017015682.2:c.567C>A XP_016871171.1:p.Asp189Glu
XM_017015683.2:c.531C>A XP_016871172.1:p.Asp177Glu
XM_017015684.2:c.540C>A XP_016871173.1:p.Asp180Glu
XM_017015685.2:c.567C>A XP_016871174.1:p.Asp189Glu
XM_017015686.2:c.567C>A XP_016871175.1:p.Asp189Glu
XM_017015687.2:c.567C>A XP_016871176.1:p.Asp189Glu
XM_017015688.2:c.567C>A XP_016871177.1:p.Asp189Glu
XM_017015689.2:c.567C>A XP_016871178.1:p.Asp189Glu
XM_017015690.2:c.477C>A XP_016871179.1:p.Asp159Glu
XM_017015691.2:c.567C>A XP_016871180.1:p.Asp189Glu
XM_017015692.2:c.531C>A XP_016871181.1:p.Asp177Glu
XM_017015693.2:c.567C>A XP_016871182.1:p.Asp189Glu
XM_017015694.2:c.426C>A XP_016871183.1:p.Asp142Glu
XM_017015695.2:c.426C>A XP_016871184.1:p.Asp142Glu
XM_017015697.2:c.-34C>A XP_016871186.1:n.-34C>A
XM_024447815.1:c.567C>A XP_024303583.1:p.Asp189Glu
XM_024447816.1:c.453C>A XP_024303584.1:p.Asp151Glu
XM_024447817.1:c.453C>A XP_024303585.1:p.Asp151Glu
XM_024447818.1:c.426C>A XP_024303586.1:p.Asp142Glu
XR_001747024.2:n.1156C>A