Canonical Allele Identifier: CA400934985

Gene: CD300LF RAB37

Linked Data

• MyVariant Identifiers: chr17:g.72691900G>C (hg19) ; chr17:g.74695761G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695761G>C , CM000679.2:g.74695761G>C	GRCh38
NC_000017.10:g.72691900G>C , CM000679.1:g.72691900G>C	GRCh37
NC_000017.9:g.70203495G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.681C>G (CD300LF) MANE Select	ENSP00000327075.6:p.Ala227=
ENST00000301573.13:c.727C>G (CD300LF)	ENSP00000301573.9:p.Pro243Ala
ENST00000326165.10:c.681C>G (CD300LF)	ENSP00000327075.6:p.Ala227=
ENST00000340415.7:c.72+24103G>C (RAB37)	ENSP00000341354.3:n.72+24103G>C
ENST00000343125.8:c.577C>G (CD300LF)	ENSP00000343751.4:p.Pro193Ala
ENST00000361254.8:c.712C>G (CD300LF)	ENSP00000355294.4:p.Pro238Ala
ENST00000392617.7:n.479+24103G>C (RAB37)
ENST00000402449.8:c.72+24103G>C (RAB37)	ENSP00000383934.4:n.72+24103G>C
ENST00000462044.5:c.*56C>G (CD300LF)	ENSP00000464223.1:n.*56C>G
ENST00000464910.5:c.690C>G (CD300LF)	ENSP00000464257.1:p.Ala230=
ENST00000469092.5:c.577C>G (CD300LF)	ENSP00000463743.1:p.Pro193Ala
ENST00000581500.1:c.712C>G (CD300LF)	ENSP00000464610.1:p.Pro238Ala
ENST00000583937.5:c.726C>G (CD300LF)	ENSP00000462309.1:p.Ala242=
NM_001289082.1:c.577C>G (CD300LF)	NP_001276011.1:p.Pro193Ala
NM_001289083.1:c.727C>G (CD300LF)	NP_001276012.1:p.Pro243Ala
NM_001289084.1:c.726C>G (CD300LF)	NP_001276013.1:p.Ala242=
NM_001289085.1:c.690C>G (CD300LF)	NP_001276014.1:p.Ala230=
NM_001289086.1:c.712C>G (CD300LF)	NP_001276015.1:p.Pro238Ala
NM_001289087.1:c.658C>G (CD300LF)	NP_001276016.1:p.Pro220Ala
NM_139018.4:c.681C>G (CD300LF)	NP_620587.2:p.Ala227=
NM_175738.4:c.72+24103G>C (RAB37)	NP_783865.1:n.72+24103G>C
NR_110298.1:n.853C>G (CD300LF)
XM_011524369.1:c.813C>G (CD300LF)	XP_011522671.1:p.Ala271=
XM_011524370.1:c.804C>G (CD300LF)	XP_011522672.1:p.Ala268=
XM_011524371.1:c.804C>G (CD300LF)	XP_011522673.1:p.Ala268=
XM_011524372.1:c.768C>G (CD300LF)	XP_011522674.1:p.Ala256=
XM_011524373.1:c.759C>G (CD300LF)	XP_011522675.1:p.Ala253=
XM_011524374.1:c.759C>G (CD300LF)	XP_011522676.1:p.Ala253=
XM_011524375.1:c.735C>G (CD300LF)	XP_011522677.1:p.Ala245=
XM_011524376.1:c.790C>G (CD300LF)	XP_011522678.1:p.Pro264Ala
XM_011524377.1:c.790C>G (CD300LF)	XP_011522679.1:p.Pro264Ala
XM_011524378.1:c.781C>G (CD300LF)	XP_011522680.1:p.Pro261Ala
XM_011524379.1:c.745C>G (CD300LF)	XP_011522681.1:p.Pro249Ala
XM_017024212.2:c.738C>G (CD300LF)	XP_016879701.1:p.Ala246=
XM_017024213.2:c.793C>G (CD300LF)	XP_016879702.1:p.Pro265Ala
XM_017024214.2:c.784C>G (CD300LF)	XP_016879703.1:p.Pro262Ala
XM_017024215.1:c.736C>G (CD300LF)	XP_016879704.1:p.Pro246Ala
XM_017024216.2:c.715C>G (CD300LF)	XP_016879705.1:p.Pro239Ala
XM_017024217.2:c.703C>G (CD300LF)	XP_016879706.1:p.Pro235Ala
NM_139018.5:c.681C>G (CD300LF) MANE Select	NP_620587.2:p.Ala227=
NM_001289082.2:c.577C>G (CD300LF)	NP_001276011.1:p.Pro193Ala
NM_001289083.2:c.727C>G (CD300LF)	NP_001276012.1:p.Pro243Ala
NM_001289084.2:c.726C>G (CD300LF)	NP_001276013.1:p.Ala242=
NM_001289085.2:c.690C>G (CD300LF)	NP_001276014.1:p.Ala230=
NM_001289086.2:c.712C>G (CD300LF)	NP_001276015.1:p.Pro238Ala
NM_001289087.2:c.658C>G (CD300LF)	NP_001276016.1:p.Pro220Ala
NM_175738.5:c.72+24103G>C (RAB37)	NP_783865.1:n.72+24103G>C
NR_110298.2:n.776C>G (CD300LF)