Canonical Allele Identifier: CA376928644

Gene: COL13A1

Linked Data

• MyVariant Identifiers: chr10:g.71682468A>C (hg19) ; chr10:g.69922712A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69922712A>C , CM000672.2:g.69922712A>C	GRCh38
NC_000010.10:g.71682468A>C , CM000672.1:g.71682468A>C	GRCh37
NC_000010.9:g.71352474A>C	NCBI36
NG_046344.1:g.125825A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398969.8:c.1174A>C	ENSP00000381941.5:n.1174A>C
ENST00000673628.2:c.1049A>C	ENSP00000501050.2:p.Glu350Ala
ENST00000673641.2:c.1049A>C	ENSP00000501125.2:p.Glu350Ala
ENST00000673802.2:c.971A>C	ENSP00000501147.2:p.Glu324Ala
ENST00000673914.2:c.981A>C	ENSP00000501202.2:n.981A>C
ENST00000673957.2:c.1086A>C	ENSP00000500966.2:n.1086A>C
ENST00000674008.2:c.1175A>C	ENSP00000501091.2:n.1175A>C
ENST00000674040.2:c.1138A>C	ENSP00000501131.2:n.1138A>C
ENST00000674124.2:c.802A>C	ENSP00000501072.2:n.802A>C
ENST00000682048.1:n.335A>C
ENST00000682511.1:n.58A>C
ENST00000682679.1:c.1174A>C	ENSP00000507571.1:n.1174A>C
ENST00000683194.1:n.572A>C
ENST00000683633.1:n.500A>C
ENST00000683667.1:n.572A>C
ENST00000683993.1:n.335A>C
ENST00000684309.1:n.572A>C
ENST00000684323.1:n.56A>C
ENST00000684376.1:n.58A>C
ENST00000684387.1:n.766A>C
ENST00000357811.8:c.1112A>C	ENSP00000350463.4:p.Glu371Ala
ENST00000398978.8:c.1115A>C	ENSP00000381949.3:p.Glu372Ala
ENST00000645393.2:c.1148A>C MANE Select	ENSP00000496051.1:p.Glu383Ala
ENST00000673628.1:c.940A>C
ENST00000673641.1:c.865A>C
ENST00000673802.1:c.787A>C
ENST00000673842.1:c.1061A>C	ENSP00000501058.1:p.Glu354Ala
ENST00000673850.1:c.58A>C
ENST00000673914.1:c.898A>C
ENST00000673931.1:c.67A>C
ENST00000673957.1:c.875A>C
ENST00000674008.1:c.1138A>C
ENST00000674040.1:c.1055A>C
ENST00000674050.1:c.426A>C
ENST00000674121.1:c.944A>C	ENSP00000501084.1:p.Glu315Ala
ENST00000674124.1:c.500A>C	ENSP00000501072.1:p.Glu167Ala
ENST00000354547.7:c.1049A>C	ENSP00000346553.3:p.Glu350Ala
ENST00000357811.7:c.1049A>C	ENSP00000350463.3:p.Glu350Ala
ENST00000398969.7:c.935A>C	ENSP00000381941.4:p.Glu312Ala
ENST00000398978.7:c.1115A>C	ENSP00000381949.3:p.Glu372Ala
ENST00000479733.5:c.1142A>C	ENSP00000430089.1:p.Glu381Ala
ENST00000517713.5:c.1049A>C	ENSP00000430061.1:p.Glu350Ala
ENST00000520133.5:c.962A>C	ENSP00000430173.1:p.Glu321Ala
ENST00000520267.5:c.944A>C	ENSP00000428057.1:p.Glu315Ala
ENST00000522165.5:c.1058A>C	ENSP00000428342.1:p.Glu353Ala
NM_001130103.1:c.1115A>C	NP_001123575.1:p.Glu372Ala
NM_080798.3:c.944A>C	NP_542988.3:p.Glu315Ala
NM_080800.3:c.1058A>C	NP_542990.3:p.Glu353Ala
NM_080801.3:c.1049A>C	NP_542991.3:p.Glu350Ala
NM_080802.3:c.1049A>C	NP_542992.3:p.Glu350Ala
NM_080805.3:c.962A>C	NP_542995.3:p.Glu321Ala
XM_011539292.1:c.1148A>C	XP_011537594.1:p.Glu383Ala
XM_011539293.1:c.1148A>C	XP_011537595.1:p.Glu383Ala
XM_011539294.1:c.1085A>C	XP_011537596.1:p.Glu362Ala
XM_011539295.1:c.1148A>C	XP_011537597.1:p.Glu383Ala
XM_011539296.1:c.*54A>C	XP_011537598.1:n.*54A>C
NM_001320951.1:c.1085A>C	NP_001307880.1:p.Glu362Ala
XM_011539292.3:c.1148A>C	XP_011537594.1:p.Glu383Ala
XM_011539293.3:c.1148A>C	XP_011537595.1:p.Glu383Ala
XM_011539294.3:c.1085A>C	XP_011537596.1:p.Glu362Ala
XM_011539295.3:c.1148A>C	XP_011537597.1:p.Glu383Ala
XM_017015676.2:c.1148A>C	XP_016871165.1:p.Glu383Ala
XM_017015677.2:c.1148A>C	XP_016871166.1:p.Glu383Ala
XM_017015679.2:c.1148A>C	XP_016871168.1:p.Glu383Ala
XM_017015680.2:c.1148A>C	XP_016871169.1:p.Glu383Ala
XM_017015681.2:c.1085A>C	XP_016871170.1:p.Glu362Ala
XM_017015682.2:c.1148A>C	XP_016871171.1:p.Glu383Ala
XM_017015683.2:c.1112A>C	XP_016871172.1:p.Glu371Ala
XM_017015684.2:c.1049A>C	XP_016871173.1:p.Glu350Ala
XM_017015685.2:c.1085A>C	XP_016871174.1:p.Glu362Ala
XM_017015686.2:c.1085A>C	XP_016871175.1:p.Glu362Ala
XM_017015687.2:c.1148A>C	XP_016871176.1:p.Glu383Ala
XM_017015688.2:c.1085A>C	XP_016871177.1:p.Glu362Ala
XM_017015689.2:c.1085A>C	XP_016871178.1:p.Glu362Ala
XM_017015690.2:c.1058A>C	XP_016871179.1:p.Glu353Ala
XM_017015691.2:c.1085A>C	XP_016871180.1:p.Glu362Ala
XM_017015692.2:c.1049A>C	XP_016871181.1:p.Glu350Ala
XM_017015693.2:c.1085A>C	XP_016871182.1:p.Glu362Ala
XM_017015694.2:c.944A>C	XP_016871183.1:p.Glu315Ala
XM_017015695.2:c.944A>C	XP_016871184.1:p.Glu315Ala
XM_017015697.2:c.485A>C	XP_016871186.1:p.Glu162Ala
XM_024447815.1:c.1148A>C	XP_024303583.1:p.Glu383Ala
XM_024447816.1:c.962A>C	XP_024303584.1:p.Glu321Ala
XM_024447817.1:c.971A>C	XP_024303585.1:p.Glu324Ala
XM_024447818.1:c.944A>C	XP_024303586.1:p.Glu315Ala
XR_001747024.2:n.1711A>C
NM_001130103.2:c.1115A>C	NP_001123575.1:p.Glu372Ala
NM_001320951.2:c.1085A>C	NP_001307880.1:p.Glu362Ala
NM_001368882.1:c.1148A>C MANE Select	NP_001355811.1:p.Glu383Ala
NM_001368883.1:c.1112A>C	NP_001355812.1:p.Glu371Ala
NM_001368884.1:c.1085A>C	NP_001355813.1:p.Glu362Ala
NM_001368885.1:c.1049A>C	NP_001355814.1:p.Glu350Ala
NM_001368886.1:c.485A>C	NP_001355815.1:p.Glu162Ala
NM_001368895.1:c.1058A>C	NP_001355824.1:p.Glu353Ala
NM_001368896.1:c.944A>C	NP_001355825.1:p.Glu315Ala
NM_001368897.1:c.971A>C	NP_001355826.1:p.Glu324Ala
NM_001368898.1:c.944A>C	NP_001355827.1:p.Glu315Ala
NM_080798.4:c.944A>C	NP_542988.3:p.Glu315Ala
NM_080800.4:c.1058A>C	NP_542990.3:p.Glu353Ala
NM_080801.4:c.1049A>C	NP_542991.3:p.Glu350Ala
NM_080802.4:c.1049A>C	NP_542992.3:p.Glu350Ala
NM_080805.4:c.962A>C	NP_542995.3:p.Glu321Ala