Canonical Allele Identifier: CA400935166

Gene: CD300LF RAB37

Linked Data

• dbSNP Id: rs775422171
• gnomAD v3: 17-74695828-T-G
• gnomAD v4: 17-74695828-T-G
• MyVariant Identifiers: chr17:g.72691967T>G (hg19) ; chr17:g.74695828T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695828T>G , CM000679.2:g.74695828T>G	GRCh38
NC_000017.10:g.72691967T>G , CM000679.1:g.72691967T>G	GRCh37
NC_000017.9:g.70203562T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.614A>C (CD300LF) MANE Select	ENSP00000327075.6:p.Tyr205Ser
ENST00000301573.13:c.660A>C (CD300LF)	ENSP00000301573.9:p.Leu220=
ENST00000326165.10:c.614A>C (CD300LF)	ENSP00000327075.6:p.Tyr205Ser
ENST00000340415.7:c.72+24170T>G (RAB37)	ENSP00000341354.3:n.72+24170T>G
ENST00000343125.8:c.510A>C (CD300LF)	ENSP00000343751.4:p.Leu170=
ENST00000361254.8:c.645A>C (CD300LF)	ENSP00000355294.4:p.Leu215=
ENST00000392617.7:n.479+24170T>G (RAB37)
ENST00000402449.8:c.72+24170T>G (RAB37)	ENSP00000383934.4:n.72+24170T>G
ENST00000462044.5:c.487A>C (CD300LF)	ENSP00000464223.1:p.Met163Leu
ENST00000464910.5:c.623A>C (CD300LF)	ENSP00000464257.1:p.Tyr208Ser
ENST00000469092.5:c.510A>C (CD300LF)	ENSP00000463743.1:p.Leu170=
ENST00000581500.1:c.645A>C (CD300LF)	ENSP00000464610.1:p.Leu215=
ENST00000583937.5:c.659A>C (CD300LF)	ENSP00000462309.1:p.Tyr220Ser
NM_001289082.1:c.510A>C (CD300LF)	NP_001276011.1:p.Leu170=
NM_001289083.1:c.660A>C (CD300LF)	NP_001276012.1:p.Leu220=
NM_001289084.1:c.659A>C (CD300LF)	NP_001276013.1:p.Tyr220Ser
NM_001289085.1:c.623A>C (CD300LF)	NP_001276014.1:p.Tyr208Ser
NM_001289086.1:c.645A>C (CD300LF)	NP_001276015.1:p.Leu215=
NM_001289087.1:c.591A>C (CD300LF)	NP_001276016.1:p.Leu197=
NM_139018.4:c.614A>C (CD300LF)	NP_620587.2:p.Tyr205Ser
NM_175738.4:c.72+24170T>G (RAB37)	NP_783865.1:n.72+24170T>G
NR_110298.1:n.786A>C (CD300LF)
XM_011524369.1:c.746A>C (CD300LF)	XP_011522671.1:p.Tyr249Ser
XM_011524370.1:c.737A>C (CD300LF)	XP_011522672.1:p.Tyr246Ser
XM_011524371.1:c.737A>C (CD300LF)	XP_011522673.1:p.Tyr246Ser
XM_011524372.1:c.701A>C (CD300LF)	XP_011522674.1:p.Tyr234Ser
XM_011524373.1:c.692A>C (CD300LF)	XP_011522675.1:p.Tyr231Ser
XM_011524374.1:c.692A>C (CD300LF)	XP_011522676.1:p.Tyr231Ser
XM_011524375.1:c.668A>C (CD300LF)	XP_011522677.1:p.Tyr223Ser
XM_011524376.1:c.723A>C (CD300LF)	XP_011522678.1:p.Leu241=
XM_011524377.1:c.723A>C (CD300LF)	XP_011522679.1:p.Leu241=
XM_011524378.1:c.714A>C (CD300LF)	XP_011522680.1:p.Leu238=
XM_011524379.1:c.678A>C (CD300LF)	XP_011522681.1:p.Leu226=
XM_017024212.2:c.671A>C (CD300LF)	XP_016879701.1:p.Tyr224Ser
XM_017024213.2:c.726A>C (CD300LF)	XP_016879702.1:p.Leu242=
XM_017024214.2:c.717A>C (CD300LF)	XP_016879703.1:p.Leu239=
XM_017024215.1:c.669A>C (CD300LF)	XP_016879704.1:p.Leu223=
XM_017024216.2:c.648A>C (CD300LF)	XP_016879705.1:p.Leu216=
XM_017024217.2:c.636A>C (CD300LF)	XP_016879706.1:p.Leu212=
NM_139018.5:c.614A>C (CD300LF) MANE Select	NP_620587.2:p.Tyr205Ser
NM_001289082.2:c.510A>C (CD300LF)	NP_001276011.1:p.Leu170=
NM_001289083.2:c.660A>C (CD300LF)	NP_001276012.1:p.Leu220=
NM_001289084.2:c.659A>C (CD300LF)	NP_001276013.1:p.Tyr220Ser
NM_001289085.2:c.623A>C (CD300LF)	NP_001276014.1:p.Tyr208Ser
NM_001289086.2:c.645A>C (CD300LF)	NP_001276015.1:p.Leu215=
NM_001289087.2:c.591A>C (CD300LF)	NP_001276016.1:p.Leu197=
NM_175738.5:c.72+24170T>G (RAB37)	NP_783865.1:n.72+24170T>G
NR_110298.2:n.709A>C (CD300LF)