Canonical Allele Identifier: CA376928994
Gene: COL13A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69922781C>T , CM000672.2:g.69922781C>T GRCh38
NC_000010.10:g.71682537C>T , CM000672.1:g.71682537C>T GRCh37
NC_000010.9:g.71352543C>T NCBI36
NG_046344.1:g.125894C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000398969.8:c.1243C>T ENSP00000381941.5:n.1243C>T
ENST00000673628.2:c.1118C>T ENSP00000501050.2:p.Pro373Leu
ENST00000673641.2:c.1118C>T ENSP00000501125.2:p.Pro373Leu
ENST00000673802.2:c.1040C>T ENSP00000501147.2:p.Pro347Leu
ENST00000673914.2:c.1050C>T ENSP00000501202.2:n.1050C>T
ENST00000673957.2:c.1155C>T ENSP00000500966.2:n.1155C>T
ENST00000674008.2:c.1244C>T ENSP00000501091.2:n.1244C>T
ENST00000674040.2:c.1207C>T ENSP00000501131.2:n.1207C>T
ENST00000674124.2:c.871C>T ENSP00000501072.2:n.871C>T
ENST00000682048.1:n.404C>T
ENST00000682511.1:n.127C>T
ENST00000682679.1:c.1243C>T ENSP00000507571.1:n.1243C>T
ENST00000683194.1:n.641C>T
ENST00000683633.1:n.569C>T
ENST00000683667.1:n.641C>T
ENST00000683993.1:n.404C>T
ENST00000684309.1:n.641C>T
ENST00000684323.1:n.125C>T
ENST00000684376.1:n.127C>T
ENST00000684387.1:n.835C>T
ENST00000357811.8:c.1181C>T ENSP00000350463.4:p.Pro394Leu
ENST00000398978.8:c.1184C>T ENSP00000381949.3:p.Pro395Leu
ENST00000645393.2:c.1217C>T MANE Select ENSP00000496051.1:p.Pro406Leu
ENST00000673628.1:c.1009C>T
ENST00000673641.1:c.934C>T
ENST00000673802.1:c.856C>T
ENST00000673842.1:c.1130C>T ENSP00000501058.1:p.Pro377Leu
ENST00000673850.1:c.127C>T
ENST00000673914.1:c.967C>T
ENST00000673931.1:c.136C>T
ENST00000673957.1:c.944C>T
ENST00000674008.1:c.1207C>T
ENST00000674040.1:c.1124C>T
ENST00000674050.1:c.495C>T
ENST00000674121.1:c.1013C>T ENSP00000501084.1:p.Pro338Leu
ENST00000674124.1:c.569C>T ENSP00000501072.1:p.Pro190Leu
ENST00000354547.7:c.1118C>T ENSP00000346553.3:p.Pro373Leu
ENST00000357811.7:c.1118C>T ENSP00000350463.3:p.Pro373Leu
ENST00000398969.7:c.1004C>T ENSP00000381941.4:p.Pro335Leu
ENST00000398978.7:c.1184C>T ENSP00000381949.3:p.Pro395Leu
ENST00000479733.5:c.1211C>T ENSP00000430089.1:p.Pro404Leu
ENST00000517713.5:c.1118C>T ENSP00000430061.1:p.Pro373Leu
ENST00000520133.5:c.1031C>T ENSP00000430173.1:p.Pro344Leu
ENST00000520267.5:c.1013C>T ENSP00000428057.1:p.Pro338Leu
ENST00000522165.5:c.1127C>T ENSP00000428342.1:p.Pro376Leu
NM_001130103.1:c.1184C>T NP_001123575.1:p.Pro395Leu
NM_080798.3:c.1013C>T NP_542988.3:p.Pro338Leu
NM_080800.3:c.1127C>T NP_542990.3:p.Pro376Leu
NM_080801.3:c.1118C>T NP_542991.3:p.Pro373Leu
NM_080802.3:c.1118C>T NP_542992.3:p.Pro373Leu
NM_080805.3:c.1031C>T NP_542995.3:p.Pro344Leu
XM_011539292.1:c.1217C>T XP_011537594.1:p.Pro406Leu
XM_011539293.1:c.1217C>T XP_011537595.1:p.Pro406Leu
XM_011539294.1:c.1154C>T XP_011537596.1:p.Pro385Leu
XM_011539295.1:c.1217C>T XP_011537597.1:p.Pro406Leu
NM_001320951.1:c.1154C>T NP_001307880.1:p.Pro385Leu
XM_011539292.3:c.1217C>T XP_011537594.1:p.Pro406Leu
XM_011539293.3:c.1217C>T XP_011537595.1:p.Pro406Leu
XM_011539294.3:c.1154C>T XP_011537596.1:p.Pro385Leu
XM_011539295.3:c.1217C>T XP_011537597.1:p.Pro406Leu
XM_017015676.2:c.1217C>T XP_016871165.1:p.Pro406Leu
XM_017015677.2:c.1217C>T XP_016871166.1:p.Pro406Leu
XM_017015679.2:c.1217C>T XP_016871168.1:p.Pro406Leu
XM_017015680.2:c.1217C>T XP_016871169.1:p.Pro406Leu
XM_017015681.2:c.1154C>T XP_016871170.1:p.Pro385Leu
XM_017015682.2:c.1217C>T XP_016871171.1:p.Pro406Leu
XM_017015683.2:c.1181C>T XP_016871172.1:p.Pro394Leu
XM_017015684.2:c.1118C>T XP_016871173.1:p.Pro373Leu
XM_017015685.2:c.1154C>T XP_016871174.1:p.Pro385Leu
XM_017015686.2:c.1154C>T XP_016871175.1:p.Pro385Leu
XM_017015687.2:c.1217C>T XP_016871176.1:p.Pro406Leu
XM_017015688.2:c.1154C>T XP_016871177.1:p.Pro385Leu
XM_017015689.2:c.1154C>T XP_016871178.1:p.Pro385Leu
XM_017015690.2:c.1127C>T XP_016871179.1:p.Pro376Leu
XM_017015691.2:c.1154C>T XP_016871180.1:p.Pro385Leu
XM_017015692.2:c.1118C>T XP_016871181.1:p.Pro373Leu
XM_017015693.2:c.1154C>T XP_016871182.1:p.Pro385Leu
XM_017015694.2:c.1013C>T XP_016871183.1:p.Pro338Leu
XM_017015695.2:c.1013C>T XP_016871184.1:p.Pro338Leu
XM_017015697.2:c.554C>T XP_016871186.1:p.Pro185Leu
XM_024447815.1:c.1217C>T XP_024303583.1:p.Pro406Leu
XM_024447816.1:c.1031C>T XP_024303584.1:p.Pro344Leu
XM_024447817.1:c.1040C>T XP_024303585.1:p.Pro347Leu
XM_024447818.1:c.1013C>T XP_024303586.1:p.Pro338Leu
XR_001747024.2:n.1780C>T
NM_001130103.2:c.1184C>T NP_001123575.1:p.Pro395Leu
NM_001320951.2:c.1154C>T NP_001307880.1:p.Pro385Leu
NM_001368882.1:c.1217C>T MANE Select NP_001355811.1:p.Pro406Leu
NM_001368883.1:c.1181C>T NP_001355812.1:p.Pro394Leu
NM_001368884.1:c.1154C>T NP_001355813.1:p.Pro385Leu
NM_001368885.1:c.1118C>T NP_001355814.1:p.Pro373Leu
NM_001368886.1:c.554C>T NP_001355815.1:p.Pro185Leu
NM_001368895.1:c.1127C>T NP_001355824.1:p.Pro376Leu
NM_001368896.1:c.1013C>T NP_001355825.1:p.Pro338Leu
NM_001368897.1:c.1040C>T NP_001355826.1:p.Pro347Leu
NM_001368898.1:c.1013C>T NP_001355827.1:p.Pro338Leu
NM_080798.4:c.1013C>T NP_542988.3:p.Pro338Leu
NM_080800.4:c.1127C>T NP_542990.3:p.Pro376Leu
NM_080801.4:c.1118C>T NP_542991.3:p.Pro373Leu
NM_080802.4:c.1118C>T NP_542992.3:p.Pro373Leu
NM_080805.4:c.1031C>T NP_542995.3:p.Pro344Leu