Canonical Allele Identifier: CA501745340
Gene: CD300LF HGNC NCBI
RAB37 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72691885C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74695746C>A , CM000679.2:g.74695746C>A GRCh38
NC_000017.10:g.72691885C>A , CM000679.1:g.72691885C>A GRCh37
NC_000017.9:g.70203480C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000326165.11:c.696G>T (CD300LF) MANE Select ENSP00000327075.6:p.Val232=
ENST00000301573.13:c.*7G>T (CD300LF) ENSP00000301573.9:n.*7G>T
ENST00000326165.10:c.696G>T (CD300LF) ENSP00000327075.6:p.Val232=
ENST00000340415.7:c.72+24088C>A (RAB37) ENSP00000341354.3:n.72+24088C>A
ENST00000343125.8:c.592G>T (CD300LF) ENSP00000343751.4:n.592G>T
ENST00000361254.8:c.727G>T (CD300LF) ENSP00000355294.4:n.727G>T
ENST00000392617.7:n.479+24088C>A (RAB37)
ENST00000402449.8:c.72+24088C>A (RAB37) ENSP00000383934.4:n.72+24088C>A
ENST00000462044.5:c.*71G>T (CD300LF) ENSP00000464223.1:n.*71G>T
ENST00000464910.5:c.705G>T (CD300LF) ENSP00000464257.1:p.Val235=
ENST00000469092.5:c.*7G>T (CD300LF) ENSP00000463743.1:n.*7G>T
ENST00000583937.5:c.741G>T (CD300LF) ENSP00000462309.1:p.Val247=
NM_001289082.1:c.*7G>T (CD300LF) NP_001276011.1:n.*7G>T
NM_001289083.1:c.*7G>T (CD300LF) NP_001276012.1:n.*7G>T
NM_001289084.1:c.741G>T (CD300LF) NP_001276013.1:p.Val247=
NM_001289085.1:c.705G>T (CD300LF) NP_001276014.1:p.Val235=
NM_001289086.1:c.*7G>T (CD300LF) NP_001276015.1:n.*7G>T
NM_001289087.1:c.*7G>T (CD300LF) NP_001276016.1:n.*7G>T
NM_139018.4:c.696G>T (CD300LF) NP_620587.2:p.Val232=
NM_175738.4:c.72+24088C>A (RAB37) NP_783865.1:n.72+24088C>A
NR_110298.1:n.868G>T (CD300LF)
XM_011524369.1:c.828G>T (CD300LF) XP_011522671.1:p.Val276=
XM_011524370.1:c.819G>T (CD300LF) XP_011522672.1:p.Val273=
XM_011524371.1:c.819G>T (CD300LF) XP_011522673.1:p.Val273=
XM_011524372.1:c.783G>T (CD300LF) XP_011522674.1:p.Val261=
XM_011524373.1:c.774G>T (CD300LF) XP_011522675.1:p.Val258=
XM_011524374.1:c.774G>T (CD300LF) XP_011522676.1:p.Val258=
XM_011524375.1:c.750G>T (CD300LF) XP_011522677.1:p.Val250=
XM_011524376.1:c.*7G>T (CD300LF) XP_011522678.1:n.*7G>T
XM_011524377.1:c.*7G>T (CD300LF) XP_011522679.1:n.*7G>T
XM_011524378.1:c.*7G>T (CD300LF) XP_011522680.1:n.*7G>T
XM_011524379.1:c.*7G>T (CD300LF) XP_011522681.1:n.*7G>T
XM_017024212.2:c.753G>T (CD300LF) XP_016879701.1:p.Val251=
XM_017024213.2:c.*7G>T (CD300LF) XP_016879702.1:n.*7G>T
XM_017024214.2:c.*7G>T (CD300LF) XP_016879703.1:n.*7G>T
XM_017024215.1:c.*7G>T (CD300LF) XP_016879704.1:n.*7G>T
XM_017024216.2:c.*7G>T (CD300LF) XP_016879705.1:n.*7G>T
XM_017024217.2:c.*7G>T (CD300LF) XP_016879706.1:n.*7G>T
NM_139018.5:c.696G>T (CD300LF) MANE Select NP_620587.2:p.Val232=
NM_001289082.2:c.*7G>T (CD300LF) NP_001276011.1:n.*7G>T
NM_001289083.2:c.*7G>T (CD300LF) NP_001276012.1:n.*7G>T
NM_001289084.2:c.741G>T (CD300LF) NP_001276013.1:p.Val247=
NM_001289085.2:c.705G>T (CD300LF) NP_001276014.1:p.Val235=
NM_001289086.2:c.*7G>T (CD300LF) NP_001276015.1:n.*7G>T
NM_001289087.2:c.*7G>T (CD300LF) NP_001276016.1:n.*7G>T
NM_175738.5:c.72+24088C>A (RAB37) NP_783865.1:n.72+24088C>A
NR_110298.2:n.791G>T (CD300LF)