Canonical Allele Identifier: CA209277196

Gene: COL13A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.69932727T>C , CM000672.2:g.69932727T>C	GRCh38
NC_000010.10:g.71692483T>C , CM000672.1:g.71692483T>C	GRCh37
NC_000010.9:g.71362489T>C	NCBI36
NG_046344.1:g.135840T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001368882.1:c.1728+123T>C MANE Select	NP_001355811.1:n.1728+123T>C
ENST00000645393.2:c.1728+123T>C MANE Select	ENSP00000496051.1:n.1728+123T>C
NM_001130103.1:c.1695+123T>C	NP_001123575.1:n.1695+123T>C
NM_001130103.2:c.1695+123T>C	NP_001123575.1:n.1695+123T>C
NM_001320951.1:c.1620+2175T>C	NP_001307880.1:n.1620+2175T>C
NM_001320951.2:c.1620+2175T>C	NP_001307880.1:n.1620+2175T>C
NM_001368883.1:c.1647+2175T>C	NP_001355812.1:n.1647+2175T>C
NM_001368884.1:c.1620+2175T>C	NP_001355813.1:n.1620+2175T>C
NM_001368885.1:c.1584+2175T>C	NP_001355814.1:n.1584+2175T>C
NM_001368886.1:c.1020+2175T>C	NP_001355815.1:n.1020+2175T>C
NM_001368895.1:c.1593+2175T>C	NP_001355824.1:n.1593+2175T>C
NM_001368896.1:c.1479+2175T>C	NP_001355825.1:n.1479+2175T>C
NM_001368897.1:c.1506+2175T>C	NP_001355826.1:n.1506+2175T>C
NM_001368898.1:c.1524+123T>C	NP_001355827.1:n.1524+123T>C
NM_080798.3:c.1479+2175T>C	NP_542988.3:n.1479+2175T>C
NM_080798.4:c.1479+2175T>C	NP_542988.3:n.1479+2175T>C
NM_080800.3:c.1638+123T>C	NP_542990.3:n.1638+123T>C
NM_080800.4:c.1638+123T>C	NP_542990.3:n.1638+123T>C
NM_080801.3:c.1629+123T>C	NP_542991.3:n.1629+123T>C
NM_080801.4:c.1629+123T>C	NP_542991.3:n.1629+123T>C
NM_080802.3:c.1584+2175T>C	NP_542992.3:n.1584+2175T>C
NM_080802.4:c.1584+2175T>C	NP_542992.3:n.1584+2175T>C
NM_080805.3:c.1497+2175T>C	NP_542995.3:n.1497+2175T>C
NM_080805.4:c.1497+2175T>C	NP_542995.3:n.1497+2175T>C
ENST00000354547.7:c.1629+123T>C	ENSP00000346553.3:n.1629+123T>C
ENST00000357811.7:c.1629+123T>C	ENSP00000350463.3:n.1629+123T>C
ENST00000357811.8:c.1647+2175T>C	ENSP00000350463.4:n.1647+2175T>C
ENST00000398969.7:c.1470+2175T>C	ENSP00000381941.4:n.1470+2175T>C
ENST00000398969.8:c.1709+2175T>C	ENSP00000381941.5:n.1709+2175T>C
ENST00000398975.6:c.284+2175T>C
ENST00000398978.7:c.1695+123T>C	ENSP00000381949.3:n.1695+123T>C
ENST00000398978.8:c.1695+123T>C	ENSP00000381949.3:n.1695+123T>C
ENST00000456019.1:c.100+2175T>C
ENST00000479733.5:c.*70+123T>C	ENSP00000430089.1:n.*70+123T>C
ENST00000517713.5:c.1584+2175T>C	ENSP00000430061.1:n.1584+2175T>C
ENST00000520133.5:c.1497+2175T>C	ENSP00000430173.1:n.1497+2175T>C
ENST00000520267.5:c.1479+2175T>C	ENSP00000428057.1:n.1479+2175T>C
ENST00000522165.5:c.1638+123T>C	ENSP00000428342.1:n.1638+123T>C
ENST00000673628.1:c.1475+2175T>C
ENST00000673628.2:c.1584+2175T>C	ENSP00000501050.2:n.1584+2175T>C
ENST00000673641.1:c.1400+2175T>C
ENST00000673641.2:c.1584+2175T>C	ENSP00000501125.2:n.1584+2175T>C
ENST00000673681.1:c.84+2175T>C	ENSP00000501048.1:n.84+2175T>C
ENST00000673768.1:c.207+123T>C	ENSP00000501247.1:n.207+123T>C
ENST00000673842.1:c.1596+2175T>C	ENSP00000501058.1:n.1596+2175T>C
ENST00000673850.1:c.593+2175T>C
ENST00000673914.1:c.1496+2175T>C
ENST00000673914.2:c.1579+2175T>C	ENSP00000501202.2:n.1579+2175T>C
ENST00000673931.1:c.602+2175T>C
ENST00000673957.1:c.1410+2175T>C
ENST00000673957.2:c.1621+2175T>C	ENSP00000500966.2:n.1621+2175T>C
ENST00000673977.1:c.80+2175T>C
ENST00000674008.1:c.1673+2175T>C
ENST00000674008.2:c.1710+2175T>C	ENSP00000501091.2:n.1710+2175T>C
ENST00000674040.1:c.1590+2175T>C
ENST00000674040.2:c.1673+2175T>C	ENSP00000501131.2:n.1673+2175T>C
ENST00000674050.1:c.1006+123T>C
ENST00000674121.1:c.1479+2175T>C	ENSP00000501084.1:n.1479+2175T>C
ENST00000674124.1:c.1035+2175T>C	ENSP00000501072.1:n.1035+2175T>C
ENST00000674124.2:c.1337+2175T>C	ENSP00000501072.2:n.1337+2175T>C
ENST00000682048.1:n.870+2175T>C
ENST00000682251.1:n.307+2175T>C
ENST00000682511.1:n.593+2175T>C
ENST00000682679.1:c.1754+123T>C	ENSP00000507571.1:n.1754+123T>C
ENST00000682702.1:n.198+2175T>C
ENST00000682817.1:n.353+2175T>C
ENST00000683194.1:n.1107+2175T>C
ENST00000683633.1:n.1035+2175T>C
ENST00000683667.1:n.1107+2175T>C
ENST00000683952.1:n.398+2175T>C
ENST00000683993.1:n.870+2175T>C
ENST00000684309.1:n.1152+123T>C
ENST00000684323.1:n.492+2175T>C
ENST00000684376.1:n.593+2175T>C
XM_011539292.1:c.1728+123T>C	XP_011537594.1:n.1728+123T>C
XM_011539292.3:c.1728+123T>C	XP_011537594.1:n.1728+123T>C
XM_011539293.1:c.1683+2175T>C	XP_011537595.1:n.1683+2175T>C
XM_011539293.3:c.1683+2175T>C	XP_011537595.1:n.1683+2175T>C
XM_011539294.1:c.1665+123T>C	XP_011537596.1:n.1665+123T>C
XM_011539294.3:c.1665+123T>C	XP_011537596.1:n.1665+123T>C
XM_011539295.1:c.1683+2175T>C	XP_011537597.1:n.1683+2175T>C
XM_011539295.3:c.1683+2175T>C	XP_011537597.1:n.1683+2175T>C
XM_017015676.2:c.1728+123T>C	XP_016871165.1:n.1728+123T>C
XM_017015677.2:c.1728+123T>C	XP_016871166.1:n.1728+123T>C
XM_017015679.2:c.1683+2175T>C	XP_016871168.1:n.1683+2175T>C
XM_017015680.2:c.1683+2175T>C	XP_016871169.1:n.1683+2175T>C
XM_017015681.2:c.1620+2175T>C	XP_016871170.1:n.1620+2175T>C
XM_017015682.2:c.1683+2175T>C	XP_016871171.1:n.1683+2175T>C
XM_017015683.2:c.1647+2175T>C	XP_016871172.1:n.1647+2175T>C
XM_017015684.2:c.1584+2175T>C	XP_016871173.1:n.1584+2175T>C
XM_017015685.2:c.1620+2175T>C	XP_016871174.1:n.1620+2175T>C
XM_017015686.2:c.1620+2175T>C	XP_016871175.1:n.1620+2175T>C
XM_017015687.2:c.1683+2175T>C	XP_016871176.1:n.1683+2175T>C
XM_017015688.2:c.1620+2175T>C	XP_016871177.1:n.1620+2175T>C
XM_017015689.2:c.1620+2175T>C	XP_016871178.1:n.1620+2175T>C
XM_017015690.2:c.1593+2175T>C	XP_016871179.1:n.1593+2175T>C
XM_017015691.2:c.1620+2175T>C	XP_016871180.1:n.1620+2175T>C
XM_017015692.2:c.1584+2175T>C	XP_016871181.1:n.1584+2175T>C
XM_017015693.2:c.1620+2175T>C	XP_016871182.1:n.1620+2175T>C
XM_017015694.2:c.1479+2175T>C	XP_016871183.1:n.1479+2175T>C
XM_017015695.2:c.1479+2175T>C	XP_016871184.1:n.1479+2175T>C
XM_017015697.2:c.1020+2175T>C	XP_016871186.1:n.1020+2175T>C
XM_024447815.1:c.1683+2175T>C	XP_024303583.1:n.1683+2175T>C
XM_024447816.1:c.1497+2175T>C	XP_024303584.1:n.1497+2175T>C
XM_024447817.1:c.1506+2175T>C	XP_024303585.1:n.1506+2175T>C
XM_024447818.1:c.1524+123T>C	XP_024303586.1:n.1524+123T>C