Canonical Allele Identifier: CA400935110

Gene: CD300LF RAB37

Linked Data

• MyVariant Identifiers: chr17:g.72691947G>A (hg19) ; chr17:g.74695808G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695808G>A , CM000679.2:g.74695808G>A	GRCh38
NC_000017.10:g.72691947G>A , CM000679.1:g.72691947G>A	GRCh37
NC_000017.9:g.70203542G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.634C>T (CD300LF) MANE Select	ENSP00000327075.6:p.Leu212=
ENST00000301573.13:c.680C>T (CD300LF)	ENSP00000301573.9:p.Ala227Val
ENST00000326165.10:c.634C>T (CD300LF)	ENSP00000327075.6:p.Leu212=
ENST00000340415.7:c.72+24150G>A (RAB37)	ENSP00000341354.3:n.72+24150G>A
ENST00000343125.8:c.530C>T (CD300LF)	ENSP00000343751.4:p.Ala177Val
ENST00000361254.8:c.665C>T (CD300LF)	ENSP00000355294.4:p.Ala222Val
ENST00000392617.7:n.479+24150G>A (RAB37)
ENST00000402449.8:c.72+24150G>A (RAB37)	ENSP00000383934.4:n.72+24150G>A
ENST00000462044.5:c.*9C>T (CD300LF)	ENSP00000464223.1:n.*9C>T
ENST00000464910.5:c.643C>T (CD300LF)	ENSP00000464257.1:p.Leu215=
ENST00000469092.5:c.530C>T (CD300LF)	ENSP00000463743.1:p.Ala177Val
ENST00000581500.1:c.665C>T (CD300LF)	ENSP00000464610.1:p.Ala222Val
ENST00000583937.5:c.679C>T (CD300LF)	ENSP00000462309.1:p.Leu227=
NM_001289082.1:c.530C>T (CD300LF)	NP_001276011.1:p.Ala177Val
NM_001289083.1:c.680C>T (CD300LF)	NP_001276012.1:p.Ala227Val
NM_001289084.1:c.679C>T (CD300LF)	NP_001276013.1:p.Leu227=
NM_001289085.1:c.643C>T (CD300LF)	NP_001276014.1:p.Leu215=
NM_001289086.1:c.665C>T (CD300LF)	NP_001276015.1:p.Ala222Val
NM_001289087.1:c.611C>T (CD300LF)	NP_001276016.1:p.Ala204Val
NM_139018.4:c.634C>T (CD300LF)	NP_620587.2:p.Leu212=
NM_175738.4:c.72+24150G>A (RAB37)	NP_783865.1:n.72+24150G>A
NR_110298.1:n.806C>T (CD300LF)
XM_011524369.1:c.766C>T (CD300LF)	XP_011522671.1:p.Leu256=
XM_011524370.1:c.757C>T (CD300LF)	XP_011522672.1:p.Leu253=
XM_011524371.1:c.757C>T (CD300LF)	XP_011522673.1:p.Leu253=
XM_011524372.1:c.721C>T (CD300LF)	XP_011522674.1:p.Leu241=
XM_011524373.1:c.712C>T (CD300LF)	XP_011522675.1:p.Leu238=
XM_011524374.1:c.712C>T (CD300LF)	XP_011522676.1:p.Leu238=
XM_011524375.1:c.688C>T (CD300LF)	XP_011522677.1:p.Leu230=
XM_011524376.1:c.743C>T (CD300LF)	XP_011522678.1:p.Ala248Val
XM_011524377.1:c.743C>T (CD300LF)	XP_011522679.1:p.Ala248Val
XM_011524378.1:c.734C>T (CD300LF)	XP_011522680.1:p.Ala245Val
XM_011524379.1:c.698C>T (CD300LF)	XP_011522681.1:p.Ala233Val
XM_017024212.2:c.691C>T (CD300LF)	XP_016879701.1:p.Leu231=
XM_017024213.2:c.746C>T (CD300LF)	XP_016879702.1:p.Ala249Val
XM_017024214.2:c.737C>T (CD300LF)	XP_016879703.1:p.Ala246Val
XM_017024215.1:c.689C>T (CD300LF)	XP_016879704.1:p.Ala230Val
XM_017024216.2:c.668C>T (CD300LF)	XP_016879705.1:p.Ala223Val
XM_017024217.2:c.656C>T (CD300LF)	XP_016879706.1:p.Ala219Val
NM_139018.5:c.634C>T (CD300LF) MANE Select	NP_620587.2:p.Leu212=
NM_001289082.2:c.530C>T (CD300LF)	NP_001276011.1:p.Ala177Val
NM_001289083.2:c.680C>T (CD300LF)	NP_001276012.1:p.Ala227Val
NM_001289084.2:c.679C>T (CD300LF)	NP_001276013.1:p.Leu227=
NM_001289085.2:c.643C>T (CD300LF)	NP_001276014.1:p.Leu215=
NM_001289086.2:c.665C>T (CD300LF)	NP_001276015.1:p.Ala222Val
NM_001289087.2:c.611C>T (CD300LF)	NP_001276016.1:p.Ala204Val
NM_175738.5:c.72+24150G>A (RAB37)	NP_783865.1:n.72+24150G>A
NR_110298.2:n.729C>T (CD300LF)