Canonical Allele Identifier: CA400935064

Gene: CD300LF RAB37

Linked Data

• dbSNP Id: rs2034310
• gnomAD v4: 17-74695789-T-G
• MyVariant Identifiers: chr17:g.72691928T>G (hg19) ; chr17:g.74695789T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695789T>G , CM000679.2:g.74695789T>G	GRCh38
NC_000017.10:g.72691928T>G , CM000679.1:g.72691928T>G	GRCh37
NC_000017.9:g.70203523T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000326165.11:c.653A>C (CD300LF) MANE Select	ENSP00000327075.6:p.Gln218Pro
ENST00000301573.13:c.699A>C (CD300LF)	ENSP00000301573.9:p.Ala233=
ENST00000326165.10:c.653A>C (CD300LF)	ENSP00000327075.6:p.Gln218Pro
ENST00000340415.7:c.72+24131T>G (RAB37)	ENSP00000341354.3:n.72+24131T>G
ENST00000343125.8:c.549A>C (CD300LF)	ENSP00000343751.4:p.Ala183=
ENST00000361254.8:c.684A>C (CD300LF)	ENSP00000355294.4:p.Ala228=
ENST00000392617.7:n.479+24131T>G (RAB37)
ENST00000402449.8:c.72+24131T>G (RAB37)	ENSP00000383934.4:n.72+24131T>G
ENST00000462044.5:c.*28A>C (CD300LF)	ENSP00000464223.1:n.*28A>C
ENST00000464910.5:c.662A>C (CD300LF)	ENSP00000464257.1:p.Gln221Pro
ENST00000469092.5:c.549A>C (CD300LF)	ENSP00000463743.1:p.Ala183=
ENST00000581500.1:c.684A>C (CD300LF)	ENSP00000464610.1:p.Ala228=
ENST00000583937.5:c.698A>C (CD300LF)	ENSP00000462309.1:p.Gln233Pro
NM_001289082.1:c.549A>C (CD300LF)	NP_001276011.1:p.Ala183=
NM_001289083.1:c.699A>C (CD300LF)	NP_001276012.1:p.Ala233=
NM_001289084.1:c.698A>C (CD300LF)	NP_001276013.1:p.Gln233Pro
NM_001289085.1:c.662A>C (CD300LF)	NP_001276014.1:p.Gln221Pro
NM_001289086.1:c.684A>C (CD300LF)	NP_001276015.1:p.Ala228=
NM_001289087.1:c.630A>C (CD300LF)	NP_001276016.1:p.Ala210=
NM_139018.4:c.653A>C (CD300LF)	NP_620587.2:p.Gln218Pro
NM_175738.4:c.72+24131T>G (RAB37)	NP_783865.1:n.72+24131T>G
NR_110298.1:n.825A>C (CD300LF)
XM_011524369.1:c.785A>C (CD300LF)	XP_011522671.1:p.Gln262Pro
XM_011524370.1:c.776A>C (CD300LF)	XP_011522672.1:p.Gln259Pro
XM_011524371.1:c.776A>C (CD300LF)	XP_011522673.1:p.Gln259Pro
XM_011524372.1:c.740A>C (CD300LF)	XP_011522674.1:p.Gln247Pro
XM_011524373.1:c.731A>C (CD300LF)	XP_011522675.1:p.Gln244Pro
XM_011524374.1:c.731A>C (CD300LF)	XP_011522676.1:p.Gln244Pro
XM_011524375.1:c.707A>C (CD300LF)	XP_011522677.1:p.Gln236Pro
XM_011524376.1:c.762A>C (CD300LF)	XP_011522678.1:p.Ala254=
XM_011524377.1:c.762A>C (CD300LF)	XP_011522679.1:p.Ala254=
XM_011524378.1:c.753A>C (CD300LF)	XP_011522680.1:p.Ala251=
XM_011524379.1:c.717A>C (CD300LF)	XP_011522681.1:p.Ala239=
XM_017024212.2:c.710A>C (CD300LF)	XP_016879701.1:p.Gln237Pro
XM_017024213.2:c.765A>C (CD300LF)	XP_016879702.1:p.Ala255=
XM_017024214.2:c.756A>C (CD300LF)	XP_016879703.1:p.Ala252=
XM_017024215.1:c.708A>C (CD300LF)	XP_016879704.1:p.Ala236=
XM_017024216.2:c.687A>C (CD300LF)	XP_016879705.1:p.Ala229=
XM_017024217.2:c.675A>C (CD300LF)	XP_016879706.1:p.Ala225=
NM_139018.5:c.653A>C (CD300LF) MANE Select	NP_620587.2:p.Gln218Pro
NM_001289082.2:c.549A>C (CD300LF)	NP_001276011.1:p.Ala183=
NM_001289083.2:c.699A>C (CD300LF)	NP_001276012.1:p.Ala233=
NM_001289084.2:c.698A>C (CD300LF)	NP_001276013.1:p.Gln233Pro
NM_001289085.2:c.662A>C (CD300LF)	NP_001276014.1:p.Gln221Pro
NM_001289086.2:c.684A>C (CD300LF)	NP_001276015.1:p.Ala228=
NM_001289087.2:c.630A>C (CD300LF)	NP_001276016.1:p.Ala210=
NM_175738.5:c.72+24131T>G (RAB37)	NP_783865.1:n.72+24131T>G
NR_110298.2:n.748A>C (CD300LF)