Canonical Allele Identifier: CA400935153

Gene: CD300LF RAB37

Linked Data

• MyVariant Identifiers: chr17:g.72691962C>A (hg19) ; chr17:g.74695823C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695823C>A , CM000679.2:g.74695823C>A	GRCh38
NC_000017.10:g.72691962C>A , CM000679.1:g.72691962C>A	GRCh37
NC_000017.9:g.70203557C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.619G>T (CD300LF) MANE Select	ENSP00000327075.6:p.Asp207Tyr
ENST00000301573.13:c.665G>T (CD300LF)	ENSP00000301573.9:p.Arg222Ile
ENST00000326165.10:c.619G>T (CD300LF)	ENSP00000327075.6:p.Asp207Tyr
ENST00000340415.7:c.72+24165C>A (RAB37)	ENSP00000341354.3:n.72+24165C>A
ENST00000343125.8:c.515G>T (CD300LF)	ENSP00000343751.4:p.Arg172Ile
ENST00000361254.8:c.650G>T (CD300LF)	ENSP00000355294.4:p.Arg217Ile
ENST00000392617.7:n.479+24165C>A (RAB37)
ENST00000402449.8:c.72+24165C>A (RAB37)	ENSP00000383934.4:n.72+24165C>A
ENST00000462044.5:c.492G>T (CD300LF)	ENSP00000464223.1:p.Gln164His
ENST00000464910.5:c.628G>T (CD300LF)	ENSP00000464257.1:p.Asp210Tyr
ENST00000469092.5:c.515G>T (CD300LF)	ENSP00000463743.1:p.Arg172Ile
ENST00000581500.1:c.650G>T (CD300LF)	ENSP00000464610.1:p.Arg217Ile
ENST00000583937.5:c.664G>T (CD300LF)	ENSP00000462309.1:p.Asp222Tyr
NM_001289082.1:c.515G>T (CD300LF)	NP_001276011.1:p.Arg172Ile
NM_001289083.1:c.665G>T (CD300LF)	NP_001276012.1:p.Arg222Ile
NM_001289084.1:c.664G>T (CD300LF)	NP_001276013.1:p.Asp222Tyr
NM_001289085.1:c.628G>T (CD300LF)	NP_001276014.1:p.Asp210Tyr
NM_001289086.1:c.650G>T (CD300LF)	NP_001276015.1:p.Arg217Ile
NM_001289087.1:c.596G>T (CD300LF)	NP_001276016.1:p.Arg199Ile
NM_139018.4:c.619G>T (CD300LF)	NP_620587.2:p.Asp207Tyr
NM_175738.4:c.72+24165C>A (RAB37)	NP_783865.1:n.72+24165C>A
NR_110298.1:n.791G>T (CD300LF)
XM_011524369.1:c.751G>T (CD300LF)	XP_011522671.1:p.Asp251Tyr
XM_011524370.1:c.742G>T (CD300LF)	XP_011522672.1:p.Asp248Tyr
XM_011524371.1:c.742G>T (CD300LF)	XP_011522673.1:p.Asp248Tyr
XM_011524372.1:c.706G>T (CD300LF)	XP_011522674.1:p.Asp236Tyr
XM_011524373.1:c.697G>T (CD300LF)	XP_011522675.1:p.Asp233Tyr
XM_011524374.1:c.697G>T (CD300LF)	XP_011522676.1:p.Asp233Tyr
XM_011524375.1:c.673G>T (CD300LF)	XP_011522677.1:p.Asp225Tyr
XM_011524376.1:c.728G>T (CD300LF)	XP_011522678.1:p.Arg243Ile
XM_011524377.1:c.728G>T (CD300LF)	XP_011522679.1:p.Arg243Ile
XM_011524378.1:c.719G>T (CD300LF)	XP_011522680.1:p.Arg240Ile
XM_011524379.1:c.683G>T (CD300LF)	XP_011522681.1:p.Arg228Ile
XM_017024212.2:c.676G>T (CD300LF)	XP_016879701.1:p.Asp226Tyr
XM_017024213.2:c.731G>T (CD300LF)	XP_016879702.1:p.Arg244Ile
XM_017024214.2:c.722G>T (CD300LF)	XP_016879703.1:p.Arg241Ile
XM_017024215.1:c.674G>T (CD300LF)	XP_016879704.1:p.Arg225Ile
XM_017024216.2:c.653G>T (CD300LF)	XP_016879705.1:p.Arg218Ile
XM_017024217.2:c.641G>T (CD300LF)	XP_016879706.1:p.Arg214Ile
NM_139018.5:c.619G>T (CD300LF) MANE Select	NP_620587.2:p.Asp207Tyr
NM_001289082.2:c.515G>T (CD300LF)	NP_001276011.1:p.Arg172Ile
NM_001289083.2:c.665G>T (CD300LF)	NP_001276012.1:p.Arg222Ile
NM_001289084.2:c.664G>T (CD300LF)	NP_001276013.1:p.Asp222Tyr
NM_001289085.2:c.628G>T (CD300LF)	NP_001276014.1:p.Asp210Tyr
NM_001289086.2:c.650G>T (CD300LF)	NP_001276015.1:p.Arg217Ile
NM_001289087.2:c.596G>T (CD300LF)	NP_001276016.1:p.Arg199Ile
NM_175738.5:c.72+24165C>A (RAB37)	NP_783865.1:n.72+24165C>A
NR_110298.2:n.714G>T (CD300LF)