Canonical Allele Identifier: CA8884117
Community Standard Title: NM_001105244.2(PTPRM):c.1448G>T (p.Gly483Val)
Gene: PTPRM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.8076461G>T , CM000680.2:g.8076461G>T GRCh38
NC_000018.9:g.8076459G>T , CM000680.1:g.8076459G>T GRCh37
NC_000018.8:g.8066459G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001105244.2:c.1448G>T MANE Select NP_001098714.1:p.Gly483Val
ENST00000580170.6:c.1448G>T MANE Select ENSP00000463325.1:p.Gly483Val
NM_001105244.1:c.1448G>T NP_001098714.1:p.Gly483Val
NM_001378142.1:c.809G>T NP_001365071.1:p.Gly270Val
NM_001378143.1:c.809G>T NP_001365072.1:p.Gly270Val
NM_001378144.1:c.809G>T NP_001365073.1:p.Gly270Val
NM_001378145.1:c.809G>T NP_001365074.1:p.Gly270Val
NM_001378146.1:c.809G>T NP_001365075.1:p.Gly270Val
NM_001378147.1:c.809G>T NP_001365076.1:p.Gly270Val
NM_002845.3:c.1448G>T NP_002836.3:p.Gly483Val
NM_002845.4:c.1448G>T NP_002836.3:p.Gly483Val
ENST00000332175.12:c.1448G>T ENSP00000331418.8:p.Gly483Val
ENST00000400053.8:c.1262G>T ENSP00000382927.4:p.Gly421Val
ENST00000400060.8:c.-2111G>T ENSP00000382933.5:n.-2111G>T
ENST00000578571.5:n.551G>T
ENST00000578698.1:n.383G>T
ENST00000580170.5:c.1448G>T ENSP00000463325.1:p.Gly483Val
XM_006722335.2:c.1448G>T XP_006722398.1:p.Gly483Val
XM_006722337.2:c.1448G>T XP_006722400.1:p.Gly483Val
XM_011525708.1:c.1448G>T XP_011524010.1:p.Gly483Val
XM_011525708.2:c.1448G>T XP_011524010.1:p.Gly483Val
XM_011525709.1:c.1448G>T XP_011524011.1:p.Gly483Val
XM_011525710.1:c.1448G>T XP_011524012.1:p.Gly483Val
XM_011525710.2:c.1448G>T XP_011524012.1:p.Gly483Val
XM_011525711.1:c.1448G>T XP_011524013.1:p.Gly483Val
XM_011525712.1:c.1448G>T XP_011524014.1:p.Gly483Val
XM_011525712.2:c.1448G>T XP_011524014.1:p.Gly483Val
XM_011525713.1:c.1262G>T XP_011524015.1:p.Gly421Val
XM_011525713.2:c.1262G>T XP_011524015.1:p.Gly421Val
XM_011525714.1:c.1244G>T XP_011524016.1:p.Gly415Val
XM_011525715.1:c.809G>T XP_011524017.1:p.Gly270Val
XM_011525715.2:c.809G>T XP_011524017.1:p.Gly270Val
XM_011525716.1:c.809G>T XP_011524018.1:p.Gly270Val
XM_011525716.2:c.809G>T XP_011524018.1:p.Gly270Val
XM_011525717.1:c.311G>T XP_011524019.1:p.Gly104Val
XM_011525717.2:c.311G>T XP_011524019.1:p.Gly104Val
XM_011525718.1:c.1448G>T XP_011524020.1:p.Gly483Val
XM_011525719.1:c.1448G>T XP_011524021.1:p.Gly483Val
XM_011525720.1:c.1448G>T XP_011524022.1:p.Gly483Val
XM_011525721.1:c.1448G>T XP_011524023.1:p.Gly483Val
XM_011525722.1:c.809G>T XP_011524024.1:p.Gly270Val
XM_011525722.3:c.809G>T XP_011524024.1:p.Gly270Val
XM_017025894.1:c.1433G>T XP_016881383.1:p.Gly478Val
XM_017025895.1:c.1433G>T XP_016881384.1:p.Gly478Val
XM_017025896.1:c.1433G>T XP_016881385.1:p.Gly478Val
XM_017025897.1:c.1433G>T XP_016881386.1:p.Gly478Val
XM_017025898.1:c.1433G>T XP_016881387.1:p.Gly478Val
XM_017025899.1:c.1433G>T XP_016881388.1:p.Gly478Val
XM_017025900.1:c.1433G>T XP_016881389.1:p.Gly478Val
XM_017025901.1:c.1433G>T XP_016881390.1:p.Gly478Val
XM_017025902.1:c.1433G>T XP_016881391.1:p.Gly478Val
XM_017025903.1:c.1433G>T XP_016881392.1:p.Gly478Val
XM_017025904.1:c.1433G>T XP_016881393.1:p.Gly478Val
XM_017025905.1:c.1262G>T XP_016881394.1:p.Gly421Val
XM_017025906.1:c.809G>T XP_016881395.1:p.Gly270Val
XM_017025907.1:c.809G>T XP_016881396.1:p.Gly270Val
XM_017025908.1:c.809G>T XP_016881397.1:p.Gly270Val
XM_017025909.1:c.809G>T XP_016881398.1:p.Gly270Val
XM_017025910.1:c.1433G>T XP_016881399.1:p.Gly478Val
XM_017025911.1:c.1448G>T XP_016881400.1:p.Gly483Val
XM_017025912.1:c.1433G>T XP_016881401.1:p.Gly478Val
XR_001753258.1:n.1490G>T
XR_430046.2:n.1946G>T