Canonical Allele Identifier: CA8749771

Gene: CD300LF RAB37

Linked Data

• dbSNP Id: rs145075298
• ExAC: 17:72691961 T / A
• gnomAD v2: 17-72691961-T-A
• gnomAD v3: 17-74695822-T-A
• gnomAD v4: 17-74695822-T-A
• MyVariant Identifiers: chr17:g.72691961T>A (hg19) ; chr17:g.74695822T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695822T>A , CM000679.2:g.74695822T>A	GRCh38
NC_000017.10:g.72691961T>A , CM000679.1:g.72691961T>A	GRCh37
NC_000017.9:g.70203556T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.620A>T (CD300LF) MANE Select	ENSP00000327075.6:p.Asp207Val
ENST00000301573.13:c.666A>T (CD300LF)	ENSP00000301573.9:p.Arg222Ser
ENST00000326165.10:c.620A>T (CD300LF)	ENSP00000327075.6:p.Asp207Val
ENST00000340415.7:c.72+24164T>A (RAB37)	ENSP00000341354.3:n.72+24164T>A
ENST00000343125.8:c.516A>T (CD300LF)	ENSP00000343751.4:p.Arg172Ser
ENST00000361254.8:c.651A>T (CD300LF)	ENSP00000355294.4:p.Arg217Ser
ENST00000392617.7:n.479+24164T>A (RAB37)
ENST00000402449.8:c.72+24164T>A (RAB37)	ENSP00000383934.4:n.72+24164T>A
ENST00000462044.5:c.493A>T (CD300LF)	ENSP00000464223.1:p.Thr165Ser
ENST00000464910.5:c.629A>T (CD300LF)	ENSP00000464257.1:p.Asp210Val
ENST00000469092.5:c.516A>T (CD300LF)	ENSP00000463743.1:p.Arg172Ser
ENST00000581500.1:c.651A>T (CD300LF)	ENSP00000464610.1:p.Arg217Ser
ENST00000583937.5:c.665A>T (CD300LF)	ENSP00000462309.1:p.Asp222Val
NM_001289082.1:c.516A>T (CD300LF)	NP_001276011.1:p.Arg172Ser
NM_001289083.1:c.666A>T (CD300LF)	NP_001276012.1:p.Arg222Ser
NM_001289084.1:c.665A>T (CD300LF)	NP_001276013.1:p.Asp222Val
NM_001289085.1:c.629A>T (CD300LF)	NP_001276014.1:p.Asp210Val
NM_001289086.1:c.651A>T (CD300LF)	NP_001276015.1:p.Arg217Ser
NM_001289087.1:c.597A>T (CD300LF)	NP_001276016.1:p.Arg199Ser
NM_139018.4:c.620A>T (CD300LF)	NP_620587.2:p.Asp207Val
NM_175738.4:c.72+24164T>A (RAB37)	NP_783865.1:n.72+24164T>A
NR_110298.1:n.792A>T (CD300LF)
XM_011524369.1:c.752A>T (CD300LF)	XP_011522671.1:p.Asp251Val
XM_011524370.1:c.743A>T (CD300LF)	XP_011522672.1:p.Asp248Val
XM_011524371.1:c.743A>T (CD300LF)	XP_011522673.1:p.Asp248Val
XM_011524372.1:c.707A>T (CD300LF)	XP_011522674.1:p.Asp236Val
XM_011524373.1:c.698A>T (CD300LF)	XP_011522675.1:p.Asp233Val
XM_011524374.1:c.698A>T (CD300LF)	XP_011522676.1:p.Asp233Val
XM_011524375.1:c.674A>T (CD300LF)	XP_011522677.1:p.Asp225Val
XM_011524376.1:c.729A>T (CD300LF)	XP_011522678.1:p.Arg243Ser
XM_011524377.1:c.729A>T (CD300LF)	XP_011522679.1:p.Arg243Ser
XM_011524378.1:c.720A>T (CD300LF)	XP_011522680.1:p.Arg240Ser
XM_011524379.1:c.684A>T (CD300LF)	XP_011522681.1:p.Arg228Ser
XM_017024212.2:c.677A>T (CD300LF)	XP_016879701.1:p.Asp226Val
XM_017024213.2:c.732A>T (CD300LF)	XP_016879702.1:p.Arg244Ser
XM_017024214.2:c.723A>T (CD300LF)	XP_016879703.1:p.Arg241Ser
XM_017024215.1:c.675A>T (CD300LF)	XP_016879704.1:p.Arg225Ser
XM_017024216.2:c.654A>T (CD300LF)	XP_016879705.1:p.Arg218Ser
XM_017024217.2:c.642A>T (CD300LF)	XP_016879706.1:p.Arg214Ser
NM_139018.5:c.620A>T (CD300LF) MANE Select	NP_620587.2:p.Asp207Val
NM_001289082.2:c.516A>T (CD300LF)	NP_001276011.1:p.Arg172Ser
NM_001289083.2:c.666A>T (CD300LF)	NP_001276012.1:p.Arg222Ser
NM_001289084.2:c.665A>T (CD300LF)	NP_001276013.1:p.Asp222Val
NM_001289085.2:c.629A>T (CD300LF)	NP_001276014.1:p.Asp210Val
NM_001289086.2:c.651A>T (CD300LF)	NP_001276015.1:p.Arg217Ser
NM_001289087.2:c.597A>T (CD300LF)	NP_001276016.1:p.Arg199Ser
NM_175738.5:c.72+24164T>A (RAB37)	NP_783865.1:n.72+24164T>A
NR_110298.2:n.715A>T (CD300LF)