Canonical Allele Identifier: CA209290397
Community Standard Title: NM_001368882.1(COL13A1):c.2040C>T (p.Pro680=)
Gene: COL13A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69947324C>T , CM000672.2:g.69947324C>T GRCh38
NC_000010.10:g.71707080C>T , CM000672.1:g.71707080C>T GRCh37
NC_000010.9:g.71377086C>T NCBI36
NG_046344.1:g.150437C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001368882.1:c.2040C>T MANE Select NP_001355811.1:p.Pro680=
ENST00000645393.2:c.2040C>T MANE Select ENSP00000496051.1:p.Pro680=
NM_001130103.1:c.2007C>T NP_001123575.1:p.Pro669=
NM_001130103.2:c.2007C>T NP_001123575.1:p.Pro669=
NM_001320951.1:c.1896C>T NP_001307880.1:p.Pro632=
NM_001320951.2:c.1896C>T NP_001307880.1:p.Pro632=
NM_001368883.1:c.1917C>T NP_001355812.1:p.Pro639=
NM_001368884.1:c.1854C>T NP_001355813.1:p.Pro618=
NM_001368885.1:c.1818C>T NP_001355814.1:p.Pro606=
NM_001368886.1:c.1296C>T NP_001355815.1:p.Pro432=
NM_001368895.1:c.1827C>T NP_001355824.1:p.Pro609=
NM_001368896.1:c.1749C>T NP_001355825.1:p.Pro583=
NM_001368897.1:c.1740C>T NP_001355826.1:p.Pro580=
NM_001368898.1:c.1800C>T NP_001355827.1:p.Pro600=
NM_080798.3:c.1791C>T NP_542988.3:p.Pro597=
NM_080798.4:c.1791C>T NP_542988.3:p.Pro597=
NM_080800.3:c.1914C>T NP_542990.3:p.Pro638=
NM_080800.4:c.1914C>T NP_542990.3:p.Pro638=
NM_080801.3:c.1941C>T NP_542991.3:p.Pro647=
NM_080801.4:c.1941C>T NP_542991.3:p.Pro647=
NM_080802.3:c.1860C>T NP_542992.3:p.Pro620=
NM_080802.4:c.1860C>T NP_542992.3:p.Pro620=
NM_080805.3:c.1773C>T NP_542995.3:p.Pro591=
NM_080805.4:c.1773C>T NP_542995.3:p.Pro591=
ENST00000354547.7:c.1941C>T ENSP00000346553.3:p.Pro647=
ENST00000357811.7:c.1905C>T ENSP00000350463.3:p.Pro635=
ENST00000357811.8:c.1917C>T ENSP00000350463.4:p.Pro639=
ENST00000398969.7:c.1782C>T ENSP00000381941.4:p.Pro594=
ENST00000398969.8:c.1979C>T ENSP00000381941.5:n.1979C>T
ENST00000398975.6:c.596C>T
ENST00000398978.7:c.2007C>T ENSP00000381949.3:p.Pro669=
ENST00000398978.8:c.2007C>T ENSP00000381949.3:p.Pro669=
ENST00000456019.1:c.376C>T
ENST00000479733.5:c.*346C>T ENSP00000430089.1:n.*346C>T
ENST00000517713.5:c.1860C>T ENSP00000430061.1:p.Pro620=
ENST00000518052.1:n.126C>T
ENST00000520133.5:c.1773C>T ENSP00000430173.1:p.Pro591=
ENST00000520267.5:c.1791C>T ENSP00000428057.1:p.Pro597=
ENST00000522165.5:c.1914C>T ENSP00000428342.1:p.Pro638=
ENST00000673628.1:c.1709C>T
ENST00000673628.2:c.1818C>T ENSP00000501050.2:p.Pro606=
ENST00000673641.1:c.1670C>T
ENST00000673641.2:c.1854C>T ENSP00000501125.2:p.Pro618=
ENST00000673681.1:c.655C>T ENSP00000501048.1:n.655C>T
ENST00000673736.1:n.2052C>T
ENST00000673736.2:n.2052C>T
ENST00000673768.1:c.477C>T ENSP00000501247.1:p.Pro159=
ENST00000673842.1:c.1830C>T ENSP00000501058.1:p.Pro610=
ENST00000673850.1:c.815C>T
ENST00000673914.1:c.1766C>T
ENST00000673914.2:c.1849C>T ENSP00000501202.2:n.1849C>T
ENST00000673931.1:c.872C>T
ENST00000673957.1:c.1644C>T
ENST00000673957.2:c.1855C>T ENSP00000500966.2:n.1855C>T
ENST00000673977.1:c.206C>T
ENST00000674008.1:c.1985C>T
ENST00000674008.2:c.2022C>T ENSP00000501091.2:n.2022C>T
ENST00000674040.1:c.1866C>T
ENST00000674040.2:c.1949C>T ENSP00000501131.2:n.1949C>T
ENST00000674050.1:c.1282C>T
ENST00000674121.1:c.1749C>T ENSP00000501084.1:p.Pro583=
ENST00000674124.1:c.1423C>T ENSP00000501072.1:p.Arg475Trp
ENST00000674124.2:c.1580C>T ENSP00000501072.2:n.1580C>T
ENST00000682048.1:n.1104C>T
ENST00000682251.1:n.541C>T
ENST00000682511.1:n.827C>T
ENST00000682574.1:n.72C>T
ENST00000682679.1:c.2030C>T ENSP00000507571.1:n.2030C>T
ENST00000682702.1:n.405C>T
ENST00000682817.1:n.569C>T
ENST00000683194.1:n.1419C>T
ENST00000683633.1:n.1423C>T
ENST00000683667.1:n.1377C>T
ENST00000683952.1:n.632C>T
ENST00000683993.1:n.1146C>T
ENST00000684309.1:n.1464C>T
ENST00000684376.1:n.869C>T
XM_011539292.1:c.2040C>T XP_011537594.1:p.Pro680=
XM_011539292.3:c.2040C>T XP_011537594.1:p.Pro680=
XM_011539293.1:c.1995C>T XP_011537595.1:p.Pro665=
XM_011539293.3:c.1995C>T XP_011537595.1:p.Pro665=
XM_011539294.1:c.1977C>T XP_011537596.1:p.Pro659=
XM_011539294.3:c.1977C>T XP_011537596.1:p.Pro659=
XM_011539295.1:c.1959C>T XP_011537597.1:p.Pro653=
XM_011539295.3:c.1959C>T XP_011537597.1:p.Pro653=
XM_017015676.2:c.2040C>T XP_016871165.1:p.Pro680=
XM_017015677.2:c.2004C>T XP_016871166.1:p.Pro668=
XM_017015679.2:c.1959C>T XP_016871168.1:p.Pro653=
XM_017015680.2:c.1953C>T XP_016871169.1:p.Pro651=
XM_017015681.2:c.1932C>T XP_016871170.1:p.Pro644=
XM_017015682.2:c.1917C>T XP_016871171.1:p.Pro639=
XM_017015683.2:c.1917C>T XP_016871172.1:p.Pro639=
XM_017015684.2:c.1896C>T XP_016871173.1:p.Pro632=
XM_017015685.2:c.1890C>T XP_016871174.1:p.Pro630=
XM_017015686.2:c.1890C>T XP_016871175.1:p.Pro630=
XM_017015687.2:c.1959C>T XP_016871176.1:p.Pro653=
XM_017015688.2:c.1854C>T XP_016871177.1:p.Pro618=
XM_017015689.2:c.1932C>T XP_016871178.1:p.Pro644=
XM_017015690.2:c.1827C>T XP_016871179.1:p.Pro609=
XM_017015691.2:c.1896C>T XP_016871180.1:p.Pro632=
XM_017015692.2:c.1818C>T XP_016871181.1:p.Pro606=
XM_017015693.2:c.1890C>T XP_016871182.1:p.Pro630=
XM_017015694.2:c.1749C>T XP_016871183.1:p.Pro583=
XM_017015695.2:c.1749C>T XP_016871184.1:p.Pro583=
XM_017015697.2:c.1296C>T XP_016871186.1:p.Pro432=
XM_024447815.1:c.1995C>T XP_024303583.1:p.Pro665=
XM_024447816.1:c.1773C>T XP_024303584.1:p.Pro591=
XM_024447817.1:c.1740C>T XP_024303585.1:p.Pro580=
XM_024447818.1:c.1800C>T XP_024303586.1:p.Pro600=