Canonical Allele Identifier: CA8749777

Gene: CD300LF RAB37

Linked Data

• dbSNP Id: rs766528360
• ExAC: 17:72691985 A / T
• gnomAD v4: 17-74695846-A-T
• MyVariant Identifiers: chr17:g.72691985A>T (hg19) ; chr17:g.74695846A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695846A>T , CM000679.2:g.74695846A>T	GRCh38
NC_000017.10:g.72691985A>T , CM000679.1:g.72691985A>T	GRCh37
NC_000017.9:g.70203580A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.596T>A (CD300LF) MANE Select	ENSP00000327075.6:p.Leu199Gln
ENST00000301573.13:c.642T>A (CD300LF)	ENSP00000301573.9:p.Pro214=
ENST00000326165.10:c.596T>A (CD300LF)	ENSP00000327075.6:p.Leu199Gln
ENST00000340415.7:c.72+24188A>T (RAB37)	ENSP00000341354.3:n.72+24188A>T
ENST00000343125.8:c.492T>A (CD300LF)	ENSP00000343751.4:p.Pro164=
ENST00000361254.8:c.627T>A (CD300LF)	ENSP00000355294.4:p.Pro209=
ENST00000392617.7:n.479+24188A>T (RAB37)
ENST00000402449.8:c.72+24188A>T (RAB37)	ENSP00000383934.4:n.72+24188A>T
ENST00000462044.5:c.469T>A (CD300LF)	ENSP00000464223.1:p.Trp157Arg
ENST00000464910.5:c.605T>A (CD300LF)	ENSP00000464257.1:p.Leu202Gln
ENST00000469092.5:c.492T>A (CD300LF)	ENSP00000463743.1:p.Pro164=
ENST00000581500.1:c.627T>A (CD300LF)	ENSP00000464610.1:p.Pro209=
ENST00000583937.5:c.641T>A (CD300LF)	ENSP00000462309.1:p.Leu214Gln
NM_001289082.1:c.492T>A (CD300LF)	NP_001276011.1:p.Pro164=
NM_001289083.1:c.642T>A (CD300LF)	NP_001276012.1:p.Pro214=
NM_001289084.1:c.641T>A (CD300LF)	NP_001276013.1:p.Leu214Gln
NM_001289085.1:c.605T>A (CD300LF)	NP_001276014.1:p.Leu202Gln
NM_001289086.1:c.627T>A (CD300LF)	NP_001276015.1:p.Pro209=
NM_001289087.1:c.573T>A (CD300LF)	NP_001276016.1:p.Pro191=
NM_139018.4:c.596T>A (CD300LF)	NP_620587.2:p.Leu199Gln
NM_175738.4:c.72+24188A>T (RAB37)	NP_783865.1:n.72+24188A>T
NR_110298.1:n.768T>A (CD300LF)
XM_011524369.1:c.728T>A (CD300LF)	XP_011522671.1:p.Leu243Gln
XM_011524370.1:c.719T>A (CD300LF)	XP_011522672.1:p.Leu240Gln
XM_011524371.1:c.719T>A (CD300LF)	XP_011522673.1:p.Leu240Gln
XM_011524372.1:c.683T>A (CD300LF)	XP_011522674.1:p.Leu228Gln
XM_011524373.1:c.674T>A (CD300LF)	XP_011522675.1:p.Leu225Gln
XM_011524374.1:c.674T>A (CD300LF)	XP_011522676.1:p.Leu225Gln
XM_011524375.1:c.650T>A (CD300LF)	XP_011522677.1:p.Leu217Gln
XM_011524376.1:c.705T>A (CD300LF)	XP_011522678.1:p.Pro235=
XM_011524377.1:c.705T>A (CD300LF)	XP_011522679.1:p.Pro235=
XM_011524378.1:c.696T>A (CD300LF)	XP_011522680.1:p.Pro232=
XM_011524379.1:c.660T>A (CD300LF)	XP_011522681.1:p.Pro220=
XM_017024212.2:c.653T>A (CD300LF)	XP_016879701.1:p.Leu218Gln
XM_017024213.2:c.708T>A (CD300LF)	XP_016879702.1:p.Pro236=
XM_017024214.2:c.699T>A (CD300LF)	XP_016879703.1:p.Pro233=
XM_017024215.1:c.651T>A (CD300LF)	XP_016879704.1:p.Pro217=
XM_017024216.2:c.630T>A (CD300LF)	XP_016879705.1:p.Pro210=
XM_017024217.2:c.618T>A (CD300LF)	XP_016879706.1:p.Pro206=
NM_139018.5:c.596T>A (CD300LF) MANE Select	NP_620587.2:p.Leu199Gln
NM_001289082.2:c.492T>A (CD300LF)	NP_001276011.1:p.Pro164=
NM_001289083.2:c.642T>A (CD300LF)	NP_001276012.1:p.Pro214=
NM_001289084.2:c.641T>A (CD300LF)	NP_001276013.1:p.Leu214Gln
NM_001289085.2:c.605T>A (CD300LF)	NP_001276014.1:p.Leu202Gln
NM_001289086.2:c.627T>A (CD300LF)	NP_001276015.1:p.Pro209=
NM_001289087.2:c.573T>A (CD300LF)	NP_001276016.1:p.Pro191=
NM_175738.5:c.72+24188A>T (RAB37)	NP_783865.1:n.72+24188A>T
NR_110298.2:n.691T>A (CD300LF)