Canonical Allele Identifier: CA5534953

Gene: COL13A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69937696G>A , CM000672.2:g.69937696G>A	GRCh38
NC_000010.10:g.71697452G>A , CM000672.1:g.71697452G>A	GRCh37
NC_000010.9:g.71367458G>A	NCBI36
NG_046344.1:g.140809G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001368882.1:c.1859G>A MANE Select	NP_001355811.1:p.Arg620His
ENST00000645393.2:c.1859G>A MANE Select	ENSP00000496051.1:p.Arg620His
NM_001130103.1:c.1826G>A	NP_001123575.1:p.Arg609His
NM_001130103.2:c.1826G>A	NP_001123575.1:p.Arg609His
NM_001320951.1:c.1751G>A	NP_001307880.1:p.Arg584His
NM_001320951.2:c.1751G>A	NP_001307880.1:p.Arg584His
NM_001368883.1:c.1736G>A	NP_001355812.1:p.Arg579His
NM_001368884.1:c.1709G>A	NP_001355813.1:p.Arg570His
NM_001368885.1:c.1673G>A	NP_001355814.1:p.Arg558His
NM_001368886.1:c.1151G>A	NP_001355815.1:p.Arg384His
NM_001368895.1:c.1682G>A	NP_001355824.1:p.Arg561His
NM_001368896.1:c.1568G>A	NP_001355825.1:p.Arg523His
NM_001368897.1:c.1595G>A	NP_001355826.1:p.Arg532His
NM_001368898.1:c.1655G>A	NP_001355827.1:p.Arg552His
NM_080798.3:c.1610G>A	NP_542988.3:p.Arg537His
NM_080798.4:c.1610G>A	NP_542988.3:p.Arg537His
NM_080800.3:c.1769G>A	NP_542990.3:p.Arg590His
NM_080800.4:c.1769G>A	NP_542990.3:p.Arg590His
NM_080801.3:c.1760G>A	NP_542991.3:p.Arg587His
NM_080801.4:c.1760G>A	NP_542991.3:p.Arg587His
NM_080802.3:c.1715G>A	NP_542992.3:p.Arg572His
NM_080802.4:c.1715G>A	NP_542992.3:p.Arg572His
NM_080805.3:c.1628G>A	NP_542995.3:p.Arg543His
NM_080805.4:c.1628G>A	NP_542995.3:p.Arg543His
ENST00000354547.7:c.1760G>A	ENSP00000346553.3:p.Arg587His
ENST00000357811.7:c.1760G>A	ENSP00000350463.3:p.Arg587His
ENST00000357811.8:c.1736G>A	ENSP00000350463.4:p.Arg579His
ENST00000398969.7:c.1601G>A	ENSP00000381941.4:p.Arg534His
ENST00000398969.8:c.1798G>A	ENSP00000381941.5:n.1798G>A
ENST00000398975.6:c.415G>A
ENST00000398978.7:c.1826G>A	ENSP00000381949.3:p.Arg609His
ENST00000398978.8:c.1826G>A	ENSP00000381949.3:p.Arg609His
ENST00000456019.1:c.231G>A
ENST00000479733.5:c.*201G>A	ENSP00000430089.1:n.*201G>A
ENST00000517713.5:c.1715G>A	ENSP00000430061.1:p.Arg572His
ENST00000520133.5:c.1628G>A	ENSP00000430173.1:p.Arg543His
ENST00000520267.5:c.1610G>A	ENSP00000428057.1:p.Arg537His
ENST00000522165.5:c.1769G>A	ENSP00000428342.1:p.Arg590His
ENST00000673628.1:c.1564G>A
ENST00000673628.2:c.1673G>A	ENSP00000501050.2:p.Arg558His
ENST00000673641.1:c.1489G>A
ENST00000673641.2:c.1673G>A	ENSP00000501125.2:p.Arg558His
ENST00000673681.1:c.215G>A	ENSP00000501048.1:p.Arg72His
ENST00000673736.1:n.1907G>A
ENST00000673736.2:n.1907G>A
ENST00000673768.1:c.296G>A	ENSP00000501247.1:p.Arg99His
ENST00000673842.1:c.1685G>A	ENSP00000501058.1:p.Arg562His
ENST00000673850.1:c.724G>A
ENST00000673914.1:c.1585G>A
ENST00000673914.2:c.1668G>A	ENSP00000501202.2:n.1668G>A
ENST00000673931.1:c.691G>A
ENST00000673957.1:c.1499G>A
ENST00000673957.2:c.1710G>A	ENSP00000500966.2:n.1710G>A
ENST00000673977.1:c.81-6429G>A
ENST00000674008.1:c.1804G>A
ENST00000674008.2:c.1841G>A	ENSP00000501091.2:n.1841G>A
ENST00000674040.1:c.1721G>A
ENST00000674040.2:c.1804G>A	ENSP00000501131.2:n.1804G>A
ENST00000674050.1:c.1137G>A
ENST00000674121.1:c.1568G>A	ENSP00000501084.1:p.Arg523His
ENST00000674124.1:c.1166G>A	ENSP00000501072.1:p.Arg389His
ENST00000674124.2:c.1399G>A	ENSP00000501072.2:n.1399G>A
ENST00000682048.1:n.959G>A
ENST00000682251.1:n.396G>A
ENST00000682511.1:n.682G>A
ENST00000682679.1:c.1885G>A	ENSP00000507571.1:n.1885G>A
ENST00000682702.1:n.260G>A
ENST00000682817.1:n.442G>A
ENST00000683194.1:n.1238G>A
ENST00000683633.1:n.1166G>A
ENST00000683667.1:n.1196G>A
ENST00000683952.1:n.487G>A
ENST00000683993.1:n.1001G>A
ENST00000684309.1:n.1283G>A
ENST00000684323.1:n.581G>A
ENST00000684376.1:n.724G>A
XM_011539292.1:c.1859G>A	XP_011537594.1:p.Arg620His
XM_011539292.3:c.1859G>A	XP_011537594.1:p.Arg620His
XM_011539293.1:c.1814G>A	XP_011537595.1:p.Arg605His
XM_011539293.3:c.1814G>A	XP_011537595.1:p.Arg605His
XM_011539294.1:c.1796G>A	XP_011537596.1:p.Arg599His
XM_011539294.3:c.1796G>A	XP_011537596.1:p.Arg599His
XM_011539295.1:c.1814G>A	XP_011537597.1:p.Arg605His
XM_011539295.3:c.1814G>A	XP_011537597.1:p.Arg605His
XM_017015676.2:c.1859G>A	XP_016871165.1:p.Arg620His
XM_017015677.2:c.1859G>A	XP_016871166.1:p.Arg620His
XM_017015679.2:c.1814G>A	XP_016871168.1:p.Arg605His
XM_017015680.2:c.1772G>A	XP_016871169.1:p.Arg591His
XM_017015681.2:c.1751G>A	XP_016871170.1:p.Arg584His
XM_017015682.2:c.1772G>A	XP_016871171.1:p.Arg591His
XM_017015683.2:c.1736G>A	XP_016871172.1:p.Arg579His
XM_017015684.2:c.1715G>A	XP_016871173.1:p.Arg572His
XM_017015685.2:c.1709G>A	XP_016871174.1:p.Arg570His
XM_017015686.2:c.1709G>A	XP_016871175.1:p.Arg570His
XM_017015687.2:c.1814G>A	XP_016871176.1:p.Arg605His
XM_017015688.2:c.1709G>A	XP_016871177.1:p.Arg570His
XM_017015689.2:c.1751G>A	XP_016871178.1:p.Arg584His
XM_017015690.2:c.1682G>A	XP_016871179.1:p.Arg561His
XM_017015691.2:c.1751G>A	XP_016871180.1:p.Arg584His
XM_017015692.2:c.1673G>A	XP_016871181.1:p.Arg558His
XM_017015693.2:c.1709G>A	XP_016871182.1:p.Arg570His
XM_017015694.2:c.1568G>A	XP_016871183.1:p.Arg523His
XM_017015695.2:c.1568G>A	XP_016871184.1:p.Arg523His
XM_017015697.2:c.1151G>A	XP_016871186.1:p.Arg384His
XM_024447815.1:c.1814G>A	XP_024303583.1:p.Arg605His
XM_024447816.1:c.1628G>A	XP_024303584.1:p.Arg543His
XM_024447817.1:c.1595G>A	XP_024303585.1:p.Arg532His
XM_024447818.1:c.1655G>A	XP_024303586.1:p.Arg552His