Canonical Allele Identifier: CA400935207
Gene: CD300LF HGNC NCBI
RAB37 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74695844C>A , CM000679.2:g.74695844C>A GRCh38
NC_000017.10:g.72691983C>A , CM000679.1:g.72691983C>A GRCh37
NC_000017.9:g.70203578C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326165.11:c.598G>T (CD300LF) MANE Select ENSP00000327075.6:p.Glu200Ter
ENST00000301573.13:c.644G>T (CD300LF) ENSP00000301573.9:p.Gly215Val
ENST00000326165.10:c.598G>T (CD300LF) ENSP00000327075.6:p.Glu200Ter
ENST00000340415.7:c.72+24186C>A (RAB37) ENSP00000341354.3:n.72+24186C>A
ENST00000343125.8:c.494G>T (CD300LF) ENSP00000343751.4:p.Gly165Val
ENST00000361254.8:c.629G>T (CD300LF) ENSP00000355294.4:p.Gly210Val
ENST00000392617.7:n.479+24186C>A (RAB37)
ENST00000402449.8:c.72+24186C>A (RAB37) ENSP00000383934.4:n.72+24186C>A
ENST00000462044.5:c.471G>T (CD300LF) ENSP00000464223.1:p.Trp157Cys
ENST00000464910.5:c.607G>T (CD300LF) ENSP00000464257.1:p.Glu203Ter
ENST00000469092.5:c.494G>T (CD300LF) ENSP00000463743.1:p.Gly165Val
ENST00000581500.1:c.629G>T (CD300LF) ENSP00000464610.1:p.Gly210Val
ENST00000583937.5:c.643G>T (CD300LF) ENSP00000462309.1:p.Glu215Ter
NM_001289082.1:c.494G>T (CD300LF) NP_001276011.1:p.Gly165Val
NM_001289083.1:c.644G>T (CD300LF) NP_001276012.1:p.Gly215Val
NM_001289084.1:c.643G>T (CD300LF) NP_001276013.1:p.Glu215Ter
NM_001289085.1:c.607G>T (CD300LF) NP_001276014.1:p.Glu203Ter
NM_001289086.1:c.629G>T (CD300LF) NP_001276015.1:p.Gly210Val
NM_001289087.1:c.575G>T (CD300LF) NP_001276016.1:p.Gly192Val
NM_139018.4:c.598G>T (CD300LF) NP_620587.2:p.Glu200Ter
NM_175738.4:c.72+24186C>A (RAB37) NP_783865.1:n.72+24186C>A
NR_110298.1:n.770G>T (CD300LF)
XM_011524369.1:c.730G>T (CD300LF) XP_011522671.1:p.Glu244Ter
XM_011524370.1:c.721G>T (CD300LF) XP_011522672.1:p.Glu241Ter
XM_011524371.1:c.721G>T (CD300LF) XP_011522673.1:p.Glu241Ter
XM_011524372.1:c.685G>T (CD300LF) XP_011522674.1:p.Glu229Ter
XM_011524373.1:c.676G>T (CD300LF) XP_011522675.1:p.Glu226Ter
XM_011524374.1:c.676G>T (CD300LF) XP_011522676.1:p.Glu226Ter
XM_011524375.1:c.652G>T (CD300LF) XP_011522677.1:p.Glu218Ter
XM_011524376.1:c.707G>T (CD300LF) XP_011522678.1:p.Gly236Val
XM_011524377.1:c.707G>T (CD300LF) XP_011522679.1:p.Gly236Val
XM_011524378.1:c.698G>T (CD300LF) XP_011522680.1:p.Gly233Val
XM_011524379.1:c.662G>T (CD300LF) XP_011522681.1:p.Gly221Val
XM_017024212.2:c.655G>T (CD300LF) XP_016879701.1:p.Glu219Ter
XM_017024213.2:c.710G>T (CD300LF) XP_016879702.1:p.Gly237Val
XM_017024214.2:c.701G>T (CD300LF) XP_016879703.1:p.Gly234Val
XM_017024215.1:c.653G>T (CD300LF) XP_016879704.1:p.Gly218Val
XM_017024216.2:c.632G>T (CD300LF) XP_016879705.1:p.Gly211Val
XM_017024217.2:c.620G>T (CD300LF) XP_016879706.1:p.Gly207Val
NM_139018.5:c.598G>T (CD300LF) MANE Select NP_620587.2:p.Glu200Ter
NM_001289082.2:c.494G>T (CD300LF) NP_001276011.1:p.Gly165Val
NM_001289083.2:c.644G>T (CD300LF) NP_001276012.1:p.Gly215Val
NM_001289084.2:c.643G>T (CD300LF) NP_001276013.1:p.Glu215Ter
NM_001289085.2:c.607G>T (CD300LF) NP_001276014.1:p.Glu203Ter
NM_001289086.2:c.629G>T (CD300LF) NP_001276015.1:p.Gly210Val
NM_001289087.2:c.575G>T (CD300LF) NP_001276016.1:p.Gly192Val
NM_175738.5:c.72+24186C>A (RAB37) NP_783865.1:n.72+24186C>A
NR_110298.2:n.693G>T (CD300LF)