Canonical Allele Identifier: CA5534633

Gene: COL13A1

Linked Data

• ClinVar Variation Id: 3147178
• ClinVar RCV Id: RCV004444531
• dbSNP Id: rs765387307
• ExAC: 10:71682527 C / A
• gnomAD v2: 10-71682527-C-A
• gnomAD v4: 10-69922771-C-A
• MyVariant Identifiers: chr10:g.71682527C>A (hg19) ; chr10:g.69922771C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69922771C>A , CM000672.2:g.69922771C>A	GRCh38
NC_000010.10:g.71682527C>A , CM000672.1:g.71682527C>A	GRCh37
NC_000010.9:g.71352533C>A	NCBI36
NG_046344.1:g.125884C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398969.8:c.1233C>A	ENSP00000381941.5:n.1233C>A
ENST00000673628.2:c.1108C>A	ENSP00000501050.2:p.Leu370Ile
ENST00000673641.2:c.1108C>A	ENSP00000501125.2:p.Leu370Ile
ENST00000673802.2:c.1030C>A	ENSP00000501147.2:p.Leu344Ile
ENST00000673914.2:c.1040C>A	ENSP00000501202.2:n.1040C>A
ENST00000673957.2:c.1145C>A	ENSP00000500966.2:n.1145C>A
ENST00000674008.2:c.1234C>A	ENSP00000501091.2:n.1234C>A
ENST00000674040.2:c.1197C>A	ENSP00000501131.2:n.1197C>A
ENST00000674124.2:c.861C>A	ENSP00000501072.2:n.861C>A
ENST00000682048.1:n.394C>A
ENST00000682511.1:n.117C>A
ENST00000682679.1:c.1233C>A	ENSP00000507571.1:n.1233C>A
ENST00000683194.1:n.631C>A
ENST00000683633.1:n.559C>A
ENST00000683667.1:n.631C>A
ENST00000683993.1:n.394C>A
ENST00000684309.1:n.631C>A
ENST00000684323.1:n.115C>A
ENST00000684376.1:n.117C>A
ENST00000684387.1:n.825C>A
ENST00000357811.8:c.1171C>A	ENSP00000350463.4:p.Leu391Ile
ENST00000398978.8:c.1174C>A	ENSP00000381949.3:p.Leu392Ile
ENST00000645393.2:c.1207C>A MANE Select	ENSP00000496051.1:p.Leu403Ile
ENST00000673628.1:c.999C>A
ENST00000673641.1:c.924C>A
ENST00000673802.1:c.846C>A
ENST00000673842.1:c.1120C>A	ENSP00000501058.1:p.Leu374Ile
ENST00000673850.1:c.117C>A
ENST00000673914.1:c.957C>A
ENST00000673931.1:c.126C>A
ENST00000673957.1:c.934C>A
ENST00000674008.1:c.1197C>A
ENST00000674040.1:c.1114C>A
ENST00000674050.1:c.485C>A
ENST00000674121.1:c.1003C>A	ENSP00000501084.1:p.Leu335Ile
ENST00000674124.1:c.559C>A	ENSP00000501072.1:p.Leu187Ile
ENST00000354547.7:c.1108C>A	ENSP00000346553.3:p.Leu370Ile
ENST00000357811.7:c.1108C>A	ENSP00000350463.3:p.Leu370Ile
ENST00000398969.7:c.994C>A	ENSP00000381941.4:p.Leu332Ile
ENST00000398978.7:c.1174C>A	ENSP00000381949.3:p.Leu392Ile
ENST00000479733.5:c.1201C>A	ENSP00000430089.1:p.Leu401Ile
ENST00000517713.5:c.1108C>A	ENSP00000430061.1:p.Leu370Ile
ENST00000520133.5:c.1021C>A	ENSP00000430173.1:p.Leu341Ile
ENST00000520267.5:c.1003C>A	ENSP00000428057.1:p.Leu335Ile
ENST00000522165.5:c.1117C>A	ENSP00000428342.1:p.Leu373Ile
NM_001130103.1:c.1174C>A	NP_001123575.1:p.Leu392Ile
NM_080798.3:c.1003C>A	NP_542988.3:p.Leu335Ile
NM_080800.3:c.1117C>A	NP_542990.3:p.Leu373Ile
NM_080801.3:c.1108C>A	NP_542991.3:p.Leu370Ile
NM_080802.3:c.1108C>A	NP_542992.3:p.Leu370Ile
NM_080805.3:c.1021C>A	NP_542995.3:p.Leu341Ile
XM_011539292.1:c.1207C>A	XP_011537594.1:p.Leu403Ile
XM_011539293.1:c.1207C>A	XP_011537595.1:p.Leu403Ile
XM_011539294.1:c.1144C>A	XP_011537596.1:p.Leu382Ile
XM_011539295.1:c.1207C>A	XP_011537597.1:p.Leu403Ile
NM_001320951.1:c.1144C>A	NP_001307880.1:p.Leu382Ile
XM_011539292.3:c.1207C>A	XP_011537594.1:p.Leu403Ile
XM_011539293.3:c.1207C>A	XP_011537595.1:p.Leu403Ile
XM_011539294.3:c.1144C>A	XP_011537596.1:p.Leu382Ile
XM_011539295.3:c.1207C>A	XP_011537597.1:p.Leu403Ile
XM_017015676.2:c.1207C>A	XP_016871165.1:p.Leu403Ile
XM_017015677.2:c.1207C>A	XP_016871166.1:p.Leu403Ile
XM_017015679.2:c.1207C>A	XP_016871168.1:p.Leu403Ile
XM_017015680.2:c.1207C>A	XP_016871169.1:p.Leu403Ile
XM_017015681.2:c.1144C>A	XP_016871170.1:p.Leu382Ile
XM_017015682.2:c.1207C>A	XP_016871171.1:p.Leu403Ile
XM_017015683.2:c.1171C>A	XP_016871172.1:p.Leu391Ile
XM_017015684.2:c.1108C>A	XP_016871173.1:p.Leu370Ile
XM_017015685.2:c.1144C>A	XP_016871174.1:p.Leu382Ile
XM_017015686.2:c.1144C>A	XP_016871175.1:p.Leu382Ile
XM_017015687.2:c.1207C>A	XP_016871176.1:p.Leu403Ile
XM_017015688.2:c.1144C>A	XP_016871177.1:p.Leu382Ile
XM_017015689.2:c.1144C>A	XP_016871178.1:p.Leu382Ile
XM_017015690.2:c.1117C>A	XP_016871179.1:p.Leu373Ile
XM_017015691.2:c.1144C>A	XP_016871180.1:p.Leu382Ile
XM_017015692.2:c.1108C>A	XP_016871181.1:p.Leu370Ile
XM_017015693.2:c.1144C>A	XP_016871182.1:p.Leu382Ile
XM_017015694.2:c.1003C>A	XP_016871183.1:p.Leu335Ile
XM_017015695.2:c.1003C>A	XP_016871184.1:p.Leu335Ile
XM_017015697.2:c.544C>A	XP_016871186.1:p.Leu182Ile
XM_024447815.1:c.1207C>A	XP_024303583.1:p.Leu403Ile
XM_024447816.1:c.1021C>A	XP_024303584.1:p.Leu341Ile
XM_024447817.1:c.1030C>A	XP_024303585.1:p.Leu344Ile
XM_024447818.1:c.1003C>A	XP_024303586.1:p.Leu335Ile
XR_001747024.2:n.1770C>A
NM_001130103.2:c.1174C>A	NP_001123575.1:p.Leu392Ile
NM_001320951.2:c.1144C>A	NP_001307880.1:p.Leu382Ile
NM_001368882.1:c.1207C>A MANE Select	NP_001355811.1:p.Leu403Ile
NM_001368883.1:c.1171C>A	NP_001355812.1:p.Leu391Ile
NM_001368884.1:c.1144C>A	NP_001355813.1:p.Leu382Ile
NM_001368885.1:c.1108C>A	NP_001355814.1:p.Leu370Ile
NM_001368886.1:c.544C>A	NP_001355815.1:p.Leu182Ile
NM_001368895.1:c.1117C>A	NP_001355824.1:p.Leu373Ile
NM_001368896.1:c.1003C>A	NP_001355825.1:p.Leu335Ile
NM_001368897.1:c.1030C>A	NP_001355826.1:p.Leu344Ile
NM_001368898.1:c.1003C>A	NP_001355827.1:p.Leu335Ile
NM_080798.4:c.1003C>A	NP_542988.3:p.Leu335Ile
NM_080800.4:c.1117C>A	NP_542990.3:p.Leu373Ile
NM_080801.4:c.1108C>A	NP_542991.3:p.Leu370Ile
NM_080802.4:c.1108C>A	NP_542992.3:p.Leu370Ile
NM_080805.4:c.1021C>A	NP_542995.3:p.Leu341Ile