Canonical Allele Identifier: CA501745337

Gene: CD300LF RAB37

Linked Data

• gnomAD v4: 17-74695740-C-G
• MyVariant Identifiers: chr17:g.72691879C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695740C>G , CM000679.2:g.74695740C>G	GRCh38
NC_000017.10:g.72691879C>G , CM000679.1:g.72691879C>G	GRCh37
NC_000017.9:g.70203474C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.702G>C (CD300LF) MANE Select	ENSP00000327075.6:p.Val234=
ENST00000301573.13:c.*13G>C (CD300LF)	ENSP00000301573.9:n.*13G>C
ENST00000326165.10:c.702G>C (CD300LF)	ENSP00000327075.6:p.Val234=
ENST00000340415.7:c.72+24082C>G (RAB37)	ENSP00000341354.3:n.72+24082C>G
ENST00000343125.8:c.598G>C (CD300LF)	ENSP00000343751.4:n.598G>C
ENST00000361254.8:c.733G>C (CD300LF)	ENSP00000355294.4:n.733G>C
ENST00000392617.7:n.479+24082C>G (RAB37)
ENST00000402449.8:c.72+24082C>G (RAB37)	ENSP00000383934.4:n.72+24082C>G
ENST00000462044.5:c.*77G>C (CD300LF)	ENSP00000464223.1:n.*77G>C
ENST00000464910.5:c.711G>C (CD300LF)	ENSP00000464257.1:p.Val237=
ENST00000469092.5:c.*13G>C (CD300LF)	ENSP00000463743.1:n.*13G>C
ENST00000583937.5:c.747G>C (CD300LF)	ENSP00000462309.1:p.Val249=
NM_001289082.1:c.*13G>C (CD300LF)	NP_001276011.1:n.*13G>C
NM_001289083.1:c.*13G>C (CD300LF)	NP_001276012.1:n.*13G>C
NM_001289084.1:c.747G>C (CD300LF)	NP_001276013.1:p.Val249=
NM_001289085.1:c.711G>C (CD300LF)	NP_001276014.1:p.Val237=
NM_001289086.1:c.*13G>C (CD300LF)	NP_001276015.1:n.*13G>C
NM_001289087.1:c.*13G>C (CD300LF)	NP_001276016.1:n.*13G>C
NM_139018.4:c.702G>C (CD300LF)	NP_620587.2:p.Val234=
NM_175738.4:c.72+24082C>G (RAB37)	NP_783865.1:n.72+24082C>G
NR_110298.1:n.874G>C (CD300LF)
XM_011524369.1:c.834G>C (CD300LF)	XP_011522671.1:p.Val278=
XM_011524370.1:c.825G>C (CD300LF)	XP_011522672.1:p.Val275=
XM_011524371.1:c.825G>C (CD300LF)	XP_011522673.1:p.Val275=
XM_011524372.1:c.789G>C (CD300LF)	XP_011522674.1:p.Val263=
XM_011524373.1:c.780G>C (CD300LF)	XP_011522675.1:p.Val260=
XM_011524374.1:c.780G>C (CD300LF)	XP_011522676.1:p.Val260=
XM_011524375.1:c.756G>C (CD300LF)	XP_011522677.1:p.Val252=
XM_011524376.1:c.*13G>C (CD300LF)	XP_011522678.1:n.*13G>C
XM_011524377.1:c.*13G>C (CD300LF)	XP_011522679.1:n.*13G>C
XM_011524378.1:c.*13G>C (CD300LF)	XP_011522680.1:n.*13G>C
XM_011524379.1:c.*13G>C (CD300LF)	XP_011522681.1:n.*13G>C
XM_017024212.2:c.759G>C (CD300LF)	XP_016879701.1:p.Val253=
XM_017024213.2:c.*13G>C (CD300LF)	XP_016879702.1:n.*13G>C
XM_017024214.2:c.*13G>C (CD300LF)	XP_016879703.1:n.*13G>C
XM_017024215.1:c.*13G>C (CD300LF)	XP_016879704.1:n.*13G>C
XM_017024216.2:c.*13G>C (CD300LF)	XP_016879705.1:n.*13G>C
XM_017024217.2:c.*13G>C (CD300LF)	XP_016879706.1:n.*13G>C
NM_139018.5:c.702G>C (CD300LF) MANE Select	NP_620587.2:p.Val234=
NM_001289082.2:c.*13G>C (CD300LF)	NP_001276011.1:n.*13G>C
NM_001289083.2:c.*13G>C (CD300LF)	NP_001276012.1:n.*13G>C
NM_001289084.2:c.747G>C (CD300LF)	NP_001276013.1:p.Val249=
NM_001289085.2:c.711G>C (CD300LF)	NP_001276014.1:p.Val237=
NM_001289086.2:c.*13G>C (CD300LF)	NP_001276015.1:n.*13G>C
NM_001289087.2:c.*13G>C (CD300LF)	NP_001276016.1:n.*13G>C
NM_175738.5:c.72+24082C>G (RAB37)	NP_783865.1:n.72+24082C>G
NR_110298.2:n.797G>C (CD300LF)