Canonical Allele Identifier: CA5534411

Gene: COL13A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69898721C>T , CM000672.2:g.69898721C>T	GRCh38
NC_000010.10:g.71658477C>T , CM000672.1:g.71658477C>T	GRCh37
NC_000010.9:g.71328483C>T	NCBI36
NG_046344.1:g.101834C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001368882.1:c.709C>T MANE Select	NP_001355811.1:p.Arg237Ter
ENST00000645393.2:c.709C>T MANE Select	ENSP00000496051.1:p.Arg237Ter
NM_001130103.1:c.739C>T	NP_001123575.1:p.Arg247Ter
NM_001130103.2:c.739C>T	NP_001123575.1:p.Arg247Ter
NM_001320951.1:c.709C>T	NP_001307880.1:p.Arg237Ter
NM_001320951.2:c.709C>T	NP_001307880.1:p.Arg237Ter
NM_001368883.1:c.673C>T	NP_001355812.1:p.Arg225Ter
NM_001368884.1:c.709C>T	NP_001355813.1:p.Arg237Ter
NM_001368885.1:c.673C>T	NP_001355814.1:p.Arg225Ter
NM_001368886.1:c.109C>T	NP_001355815.1:p.Arg37Ter
NM_001368895.1:c.619C>T	NP_001355824.1:p.Arg207Ter
NM_001368896.1:c.568C>T	NP_001355825.1:p.Arg190Ter
NM_001368897.1:c.595C>T	NP_001355826.1:p.Arg199Ter
NM_001368898.1:c.568C>T	NP_001355827.1:p.Arg190Ter
NM_080798.3:c.568C>T	NP_542988.3:p.Arg190Ter
NM_080798.4:c.568C>T	NP_542988.3:p.Arg190Ter
NM_080800.3:c.682C>T	NP_542990.3:p.Arg228Ter
NM_080800.4:c.682C>T	NP_542990.3:p.Arg228Ter
NM_080801.3:c.714+1190C>T	NP_542991.3:n.714+1190C>T
NM_080801.4:c.714+1190C>T	NP_542991.3:n.714+1190C>T
NM_080802.3:c.714+1190C>T	NP_542992.3:n.714+1190C>T
NM_080802.4:c.714+1190C>T	NP_542992.3:n.714+1190C>T
NM_080805.3:c.627+1190C>T	NP_542995.3:n.627+1190C>T
NM_080805.4:c.627+1190C>T	NP_542995.3:n.627+1190C>T
ENST00000354547.7:c.714+1190C>T	ENSP00000346553.3:n.714+1190C>T
ENST00000357811.7:c.714+1190C>T	ENSP00000350463.3:n.714+1190C>T
ENST00000357811.8:c.673C>T	ENSP00000350463.4:p.Arg225Ter
ENST00000398969.7:c.559C>T	ENSP00000381941.4:p.Arg187Ter
ENST00000398969.8:c.798C>T	ENSP00000381941.5:n.798C>T
ENST00000398978.7:c.739C>T	ENSP00000381949.3:p.Arg247Ter
ENST00000398978.8:c.739C>T	ENSP00000381949.3:p.Arg247Ter
ENST00000479733.5:c.766C>T	ENSP00000430089.1:p.Arg256Ter
ENST00000517713.5:c.714+1190C>T	ENSP00000430061.1:n.714+1190C>T
ENST00000520133.5:c.627+1190C>T	ENSP00000430173.1:n.627+1190C>T
ENST00000520267.5:c.568C>T	ENSP00000428057.1:p.Arg190Ter
ENST00000522165.5:c.682C>T	ENSP00000428342.1:p.Arg228Ter
ENST00000673628.1:c.564C>T
ENST00000673628.2:c.673C>T	ENSP00000501050.2:p.Arg225Ter
ENST00000673641.1:c.489C>T
ENST00000673641.2:c.673C>T	ENSP00000501125.2:p.Arg225Ter
ENST00000673802.1:c.411C>T
ENST00000673802.2:c.595C>T	ENSP00000501147.2:p.Arg199Ter
ENST00000673842.1:c.622C>T	ENSP00000501058.1:p.Arg208Ter
ENST00000673914.1:c.485C>T
ENST00000673914.2:c.568C>T	ENSP00000501202.2:p.Arg190Ter
ENST00000673957.1:c.462C>T
ENST00000673957.2:c.673C>T	ENSP00000500966.2:p.Arg225Ter
ENST00000674008.1:c.725C>T
ENST00000674008.2:c.762C>T	ENSP00000501091.2:n.762C>T
ENST00000674040.1:c.679C>T
ENST00000674040.2:c.762C>T	ENSP00000501131.2:n.762C>T
ENST00000674050.1:c.91+1190C>T
ENST00000674121.1:c.568C>T	ENSP00000501084.1:p.Arg190Ter
ENST00000674124.1:c.124C>T	ENSP00000501072.1:p.Arg42Ter
ENST00000674124.2:c.363C>T	ENSP00000501072.2:n.363C>T
ENST00000682679.1:c.798C>T	ENSP00000507571.1:n.798C>T
ENST00000683194.1:n.196C>T
ENST00000683633.1:n.124C>T
ENST00000683667.1:n.196C>T
ENST00000684309.1:n.196C>T
ENST00000684387.1:n.390C>T
XM_011539292.1:c.709C>T	XP_011537594.1:p.Arg237Ter
XM_011539292.3:c.709C>T	XP_011537594.1:p.Arg237Ter
XM_011539293.1:c.709C>T	XP_011537595.1:p.Arg237Ter
XM_011539293.3:c.709C>T	XP_011537595.1:p.Arg237Ter
XM_011539294.1:c.709C>T	XP_011537596.1:p.Arg237Ter
XM_011539294.3:c.709C>T	XP_011537596.1:p.Arg237Ter
XM_011539295.1:c.709C>T	XP_011537597.1:p.Arg237Ter
XM_011539295.3:c.709C>T	XP_011537597.1:p.Arg237Ter
XM_011539296.1:c.709C>T	XP_011537598.1:p.Arg237Ter
XM_017015676.2:c.709C>T	XP_016871165.1:p.Arg237Ter
XM_017015677.2:c.709C>T	XP_016871166.1:p.Arg237Ter
XM_017015679.2:c.709C>T	XP_016871168.1:p.Arg237Ter
XM_017015680.2:c.709C>T	XP_016871169.1:p.Arg237Ter
XM_017015681.2:c.709C>T	XP_016871170.1:p.Arg237Ter
XM_017015682.2:c.709C>T	XP_016871171.1:p.Arg237Ter
XM_017015683.2:c.673C>T	XP_016871172.1:p.Arg225Ter
XM_017015684.2:c.714+1190C>T	XP_016871173.1:n.714+1190C>T
XM_017015685.2:c.709C>T	XP_016871174.1:p.Arg237Ter
XM_017015686.2:c.709C>T	XP_016871175.1:p.Arg237Ter
XM_017015687.2:c.709C>T	XP_016871176.1:p.Arg237Ter
XM_017015688.2:c.709C>T	XP_016871177.1:p.Arg237Ter
XM_017015689.2:c.709C>T	XP_016871178.1:p.Arg237Ter
XM_017015690.2:c.619C>T	XP_016871179.1:p.Arg207Ter
XM_017015691.2:c.709C>T	XP_016871180.1:p.Arg237Ter
XM_017015692.2:c.673C>T	XP_016871181.1:p.Arg225Ter
XM_017015693.2:c.709C>T	XP_016871182.1:p.Arg237Ter
XM_017015694.2:c.568C>T	XP_016871183.1:p.Arg190Ter
XM_017015695.2:c.568C>T	XP_016871184.1:p.Arg190Ter
XM_017015697.2:c.109C>T	XP_016871186.1:p.Arg37Ter
XM_024447815.1:c.709C>T	XP_024303583.1:p.Arg237Ter
XM_024447816.1:c.627+1190C>T	XP_024303584.1:n.627+1190C>T
XM_024447817.1:c.595C>T	XP_024303585.1:p.Arg199Ter
XM_024447818.1:c.568C>T	XP_024303586.1:p.Arg190Ter
XR_001747024.2:n.1298C>T