Canonical Allele Identifier: CA400935176
Gene: CD300LF HGNC NCBI
RAB37 HGNC NCBI

Linked Data

dbSNP Id: rs2032409117

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74695832A>G , CM000679.2:g.74695832A>G GRCh38
NC_000017.10:g.72691971A>G , CM000679.1:g.72691971A>G GRCh37
NC_000017.9:g.70203566A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326165.11:c.610T>C (CD300LF) MANE Select ENSP00000327075.6:p.Cys204Arg
ENST00000301573.13:c.656T>C (CD300LF) ENSP00000301573.9:p.Leu219Pro
ENST00000326165.10:c.610T>C (CD300LF) ENSP00000327075.6:p.Cys204Arg
ENST00000340415.7:c.72+24174A>G (RAB37) ENSP00000341354.3:n.72+24174A>G
ENST00000343125.8:c.506T>C (CD300LF) ENSP00000343751.4:p.Leu169Pro
ENST00000361254.8:c.641T>C (CD300LF) ENSP00000355294.4:p.Leu214Pro
ENST00000392617.7:n.479+24174A>G (RAB37)
ENST00000402449.8:c.72+24174A>G (RAB37) ENSP00000383934.4:n.72+24174A>G
ENST00000462044.5:c.483T>C (CD300LF) ENSP00000464223.1:p.Ser161=
ENST00000464910.5:c.619T>C (CD300LF) ENSP00000464257.1:p.Cys207Arg
ENST00000469092.5:c.506T>C (CD300LF) ENSP00000463743.1:p.Leu169Pro
ENST00000581500.1:c.641T>C (CD300LF) ENSP00000464610.1:p.Leu214Pro
ENST00000583937.5:c.655T>C (CD300LF) ENSP00000462309.1:p.Cys219Arg
NM_001289082.1:c.506T>C (CD300LF) NP_001276011.1:p.Leu169Pro
NM_001289083.1:c.656T>C (CD300LF) NP_001276012.1:p.Leu219Pro
NM_001289084.1:c.655T>C (CD300LF) NP_001276013.1:p.Cys219Arg
NM_001289085.1:c.619T>C (CD300LF) NP_001276014.1:p.Cys207Arg
NM_001289086.1:c.641T>C (CD300LF) NP_001276015.1:p.Leu214Pro
NM_001289087.1:c.587T>C (CD300LF) NP_001276016.1:p.Leu196Pro
NM_139018.4:c.610T>C (CD300LF) NP_620587.2:p.Cys204Arg
NM_175738.4:c.72+24174A>G (RAB37) NP_783865.1:n.72+24174A>G
NR_110298.1:n.782T>C (CD300LF)
XM_011524369.1:c.742T>C (CD300LF) XP_011522671.1:p.Cys248Arg
XM_011524370.1:c.733T>C (CD300LF) XP_011522672.1:p.Cys245Arg
XM_011524371.1:c.733T>C (CD300LF) XP_011522673.1:p.Cys245Arg
XM_011524372.1:c.697T>C (CD300LF) XP_011522674.1:p.Cys233Arg
XM_011524373.1:c.688T>C (CD300LF) XP_011522675.1:p.Cys230Arg
XM_011524374.1:c.688T>C (CD300LF) XP_011522676.1:p.Cys230Arg
XM_011524375.1:c.664T>C (CD300LF) XP_011522677.1:p.Cys222Arg
XM_011524376.1:c.719T>C (CD300LF) XP_011522678.1:p.Leu240Pro
XM_011524377.1:c.719T>C (CD300LF) XP_011522679.1:p.Leu240Pro
XM_011524378.1:c.710T>C (CD300LF) XP_011522680.1:p.Leu237Pro
XM_011524379.1:c.674T>C (CD300LF) XP_011522681.1:p.Leu225Pro
XM_017024212.2:c.667T>C (CD300LF) XP_016879701.1:p.Cys223Arg
XM_017024213.2:c.722T>C (CD300LF) XP_016879702.1:p.Leu241Pro
XM_017024214.2:c.713T>C (CD300LF) XP_016879703.1:p.Leu238Pro
XM_017024215.1:c.665T>C (CD300LF) XP_016879704.1:p.Leu222Pro
XM_017024216.2:c.644T>C (CD300LF) XP_016879705.1:p.Leu215Pro
XM_017024217.2:c.632T>C (CD300LF) XP_016879706.1:p.Leu211Pro
NM_139018.5:c.610T>C (CD300LF) MANE Select NP_620587.2:p.Cys204Arg
NM_001289082.2:c.506T>C (CD300LF) NP_001276011.1:p.Leu169Pro
NM_001289083.2:c.656T>C (CD300LF) NP_001276012.1:p.Leu219Pro
NM_001289084.2:c.655T>C (CD300LF) NP_001276013.1:p.Cys219Arg
NM_001289085.2:c.619T>C (CD300LF) NP_001276014.1:p.Cys207Arg
NM_001289086.2:c.641T>C (CD300LF) NP_001276015.1:p.Leu214Pro
NM_001289087.2:c.587T>C (CD300LF) NP_001276016.1:p.Leu196Pro
NM_175738.5:c.72+24174A>G (RAB37) NP_783865.1:n.72+24174A>G
NR_110298.2:n.705T>C (CD300LF)