Canonical Allele Identifier: CA400935247

Gene: CD300LF RAB37

Linked Data

• MyVariant Identifiers: chr17:g.72691998C>T (hg19) ; chr17:g.74695859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695859C>T , CM000679.2:g.74695859C>T	GRCh38
NC_000017.10:g.72691998C>T , CM000679.1:g.72691998C>T	GRCh37
NC_000017.9:g.70203593C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.583G>A (CD300LF) MANE Select	ENSP00000327075.6:p.Val195Ile
ENST00000301573.13:c.629G>A (CD300LF)	ENSP00000301573.9:p.Gly210Asp
ENST00000326165.10:c.583G>A (CD300LF)	ENSP00000327075.6:p.Val195Ile
ENST00000340415.7:c.72+24201C>T (RAB37)	ENSP00000341354.3:n.72+24201C>T
ENST00000343125.8:c.479G>A (CD300LF)	ENSP00000343751.4:p.Gly160Asp
ENST00000361254.8:c.614G>A (CD300LF)	ENSP00000355294.4:p.Gly205Asp
ENST00000392617.7:n.479+24201C>T (RAB37)
ENST00000402449.8:c.72+24201C>T (RAB37)	ENSP00000383934.4:n.72+24201C>T
ENST00000462044.5:c.456G>A (CD300LF)	ENSP00000464223.1:p.Arg152=
ENST00000464910.5:c.592G>A (CD300LF)	ENSP00000464257.1:p.Val198Ile
ENST00000469092.5:c.479G>A (CD300LF)	ENSP00000463743.1:p.Gly160Asp
ENST00000581500.1:c.614G>A (CD300LF)	ENSP00000464610.1:p.Gly205Asp
ENST00000583937.5:c.628G>A (CD300LF)	ENSP00000462309.1:p.Val210Ile
NM_001289082.1:c.479G>A (CD300LF)	NP_001276011.1:p.Gly160Asp
NM_001289083.1:c.629G>A (CD300LF)	NP_001276012.1:p.Gly210Asp
NM_001289084.1:c.628G>A (CD300LF)	NP_001276013.1:p.Val210Ile
NM_001289085.1:c.592G>A (CD300LF)	NP_001276014.1:p.Val198Ile
NM_001289086.1:c.614G>A (CD300LF)	NP_001276015.1:p.Gly205Asp
NM_001289087.1:c.560G>A (CD300LF)	NP_001276016.1:p.Gly187Asp
NM_139018.4:c.583G>A (CD300LF)	NP_620587.2:p.Val195Ile
NM_175738.4:c.72+24201C>T (RAB37)	NP_783865.1:n.72+24201C>T
NR_110298.1:n.755G>A (CD300LF)
XM_011524369.1:c.715G>A (CD300LF)	XP_011522671.1:p.Val239Ile
XM_011524370.1:c.706G>A (CD300LF)	XP_011522672.1:p.Val236Ile
XM_011524371.1:c.706G>A (CD300LF)	XP_011522673.1:p.Val236Ile
XM_011524372.1:c.670G>A (CD300LF)	XP_011522674.1:p.Val224Ile
XM_011524373.1:c.661G>A (CD300LF)	XP_011522675.1:p.Val221Ile
XM_011524374.1:c.661G>A (CD300LF)	XP_011522676.1:p.Val221Ile
XM_011524375.1:c.637G>A (CD300LF)	XP_011522677.1:p.Val213Ile
XM_011524376.1:c.692G>A (CD300LF)	XP_011522678.1:p.Gly231Asp
XM_011524377.1:c.692G>A (CD300LF)	XP_011522679.1:p.Gly231Asp
XM_011524378.1:c.683G>A (CD300LF)	XP_011522680.1:p.Gly228Asp
XM_011524379.1:c.647G>A (CD300LF)	XP_011522681.1:p.Gly216Asp
XM_017024212.2:c.640G>A (CD300LF)	XP_016879701.1:p.Val214Ile
XM_017024213.2:c.695G>A (CD300LF)	XP_016879702.1:p.Gly232Asp
XM_017024214.2:c.686G>A (CD300LF)	XP_016879703.1:p.Gly229Asp
XM_017024215.1:c.638G>A (CD300LF)	XP_016879704.1:p.Gly213Asp
XM_017024216.2:c.617G>A (CD300LF)	XP_016879705.1:p.Gly206Asp
XM_017024217.2:c.605G>A (CD300LF)	XP_016879706.1:p.Gly202Asp
NM_139018.5:c.583G>A (CD300LF) MANE Select	NP_620587.2:p.Val195Ile
NM_001289082.2:c.479G>A (CD300LF)	NP_001276011.1:p.Gly160Asp
NM_001289083.2:c.629G>A (CD300LF)	NP_001276012.1:p.Gly210Asp
NM_001289084.2:c.628G>A (CD300LF)	NP_001276013.1:p.Val210Ile
NM_001289085.2:c.592G>A (CD300LF)	NP_001276014.1:p.Val198Ile
NM_001289086.2:c.614G>A (CD300LF)	NP_001276015.1:p.Gly205Asp
NM_001289087.2:c.560G>A (CD300LF)	NP_001276016.1:p.Gly187Asp
NM_175738.5:c.72+24201C>T (RAB37)	NP_783865.1:n.72+24201C>T
NR_110298.2:n.678G>A (CD300LF)