Canonical Allele Identifier: CA400935067
Gene: CD300LF HGNC NCBI
RAB37 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74695791C>A , CM000679.2:g.74695791C>A GRCh38
NC_000017.10:g.72691930C>A , CM000679.1:g.72691930C>A GRCh37
NC_000017.9:g.70203525C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326165.11:c.651G>T (CD300LF) MANE Select ENSP00000327075.6:p.Pro217=
ENST00000301573.13:c.697G>T (CD300LF) ENSP00000301573.9:p.Ala233Ser
ENST00000326165.10:c.651G>T (CD300LF) ENSP00000327075.6:p.Pro217=
ENST00000340415.7:c.72+24133C>A (RAB37) ENSP00000341354.3:n.72+24133C>A
ENST00000343125.8:c.547G>T (CD300LF) ENSP00000343751.4:p.Ala183Ser
ENST00000361254.8:c.682G>T (CD300LF) ENSP00000355294.4:p.Ala228Ser
ENST00000392617.7:n.479+24133C>A (RAB37)
ENST00000402449.8:c.72+24133C>A (RAB37) ENSP00000383934.4:n.72+24133C>A
ENST00000462044.5:c.*26G>T (CD300LF) ENSP00000464223.1:n.*26G>T
ENST00000464910.5:c.660G>T (CD300LF) ENSP00000464257.1:p.Pro220=
ENST00000469092.5:c.547G>T (CD300LF) ENSP00000463743.1:p.Ala183Ser
ENST00000581500.1:c.682G>T (CD300LF) ENSP00000464610.1:p.Ala228Ser
ENST00000583937.5:c.696G>T (CD300LF) ENSP00000462309.1:p.Pro232=
NM_001289082.1:c.547G>T (CD300LF) NP_001276011.1:p.Ala183Ser
NM_001289083.1:c.697G>T (CD300LF) NP_001276012.1:p.Ala233Ser
NM_001289084.1:c.696G>T (CD300LF) NP_001276013.1:p.Pro232=
NM_001289085.1:c.660G>T (CD300LF) NP_001276014.1:p.Pro220=
NM_001289086.1:c.682G>T (CD300LF) NP_001276015.1:p.Ala228Ser
NM_001289087.1:c.628G>T (CD300LF) NP_001276016.1:p.Ala210Ser
NM_139018.4:c.651G>T (CD300LF) NP_620587.2:p.Pro217=
NM_175738.4:c.72+24133C>A (RAB37) NP_783865.1:n.72+24133C>A
NR_110298.1:n.823G>T (CD300LF)
XM_011524369.1:c.783G>T (CD300LF) XP_011522671.1:p.Pro261=
XM_011524370.1:c.774G>T (CD300LF) XP_011522672.1:p.Pro258=
XM_011524371.1:c.774G>T (CD300LF) XP_011522673.1:p.Pro258=
XM_011524372.1:c.738G>T (CD300LF) XP_011522674.1:p.Pro246=
XM_011524373.1:c.729G>T (CD300LF) XP_011522675.1:p.Pro243=
XM_011524374.1:c.729G>T (CD300LF) XP_011522676.1:p.Pro243=
XM_011524375.1:c.705G>T (CD300LF) XP_011522677.1:p.Pro235=
XM_011524376.1:c.760G>T (CD300LF) XP_011522678.1:p.Ala254Ser
XM_011524377.1:c.760G>T (CD300LF) XP_011522679.1:p.Ala254Ser
XM_011524378.1:c.751G>T (CD300LF) XP_011522680.1:p.Ala251Ser
XM_011524379.1:c.715G>T (CD300LF) XP_011522681.1:p.Ala239Ser
XM_017024212.2:c.708G>T (CD300LF) XP_016879701.1:p.Pro236=
XM_017024213.2:c.763G>T (CD300LF) XP_016879702.1:p.Ala255Ser
XM_017024214.2:c.754G>T (CD300LF) XP_016879703.1:p.Ala252Ser
XM_017024215.1:c.706G>T (CD300LF) XP_016879704.1:p.Ala236Ser
XM_017024216.2:c.685G>T (CD300LF) XP_016879705.1:p.Ala229Ser
XM_017024217.2:c.673G>T (CD300LF) XP_016879706.1:p.Ala225Ser
NM_139018.5:c.651G>T (CD300LF) MANE Select NP_620587.2:p.Pro217=
NM_001289082.2:c.547G>T (CD300LF) NP_001276011.1:p.Ala183Ser
NM_001289083.2:c.697G>T (CD300LF) NP_001276012.1:p.Ala233Ser
NM_001289084.2:c.696G>T (CD300LF) NP_001276013.1:p.Pro232=
NM_001289085.2:c.660G>T (CD300LF) NP_001276014.1:p.Pro220=
NM_001289086.2:c.682G>T (CD300LF) NP_001276015.1:p.Ala228Ser
NM_001289087.2:c.628G>T (CD300LF) NP_001276016.1:p.Ala210Ser
NM_175738.5:c.72+24133C>A (RAB37) NP_783865.1:n.72+24133C>A
NR_110298.2:n.746G>T (CD300LF)