Canonical Allele Identifier: CA400935208

Gene: CD300LF RAB37

Linked Data

• MyVariant Identifiers: chr17:g.72691984C>A (hg19) ; chr17:g.74695845C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695845C>A , CM000679.2:g.74695845C>A	GRCh38
NC_000017.10:g.72691984C>A , CM000679.1:g.72691984C>A	GRCh37
NC_000017.9:g.70203579C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.597G>T (CD300LF) MANE Select	ENSP00000327075.6:p.Leu199=
ENST00000301573.13:c.643G>T (CD300LF)	ENSP00000301573.9:p.Gly215Ter
ENST00000326165.10:c.597G>T (CD300LF)	ENSP00000327075.6:p.Leu199=
ENST00000340415.7:c.72+24187C>A (RAB37)	ENSP00000341354.3:n.72+24187C>A
ENST00000343125.8:c.493G>T (CD300LF)	ENSP00000343751.4:p.Gly165Ter
ENST00000361254.8:c.628G>T (CD300LF)	ENSP00000355294.4:p.Gly210Ter
ENST00000392617.7:n.479+24187C>A (RAB37)
ENST00000402449.8:c.72+24187C>A (RAB37)	ENSP00000383934.4:n.72+24187C>A
ENST00000462044.5:c.470G>T (CD300LF)	ENSP00000464223.1:p.Trp157Leu
ENST00000464910.5:c.606G>T (CD300LF)	ENSP00000464257.1:p.Leu202=
ENST00000469092.5:c.493G>T (CD300LF)	ENSP00000463743.1:p.Gly165Ter
ENST00000581500.1:c.628G>T (CD300LF)	ENSP00000464610.1:p.Gly210Ter
ENST00000583937.5:c.642G>T (CD300LF)	ENSP00000462309.1:p.Leu214=
NM_001289082.1:c.493G>T (CD300LF)	NP_001276011.1:p.Gly165Ter
NM_001289083.1:c.643G>T (CD300LF)	NP_001276012.1:p.Gly215Ter
NM_001289084.1:c.642G>T (CD300LF)	NP_001276013.1:p.Leu214=
NM_001289085.1:c.606G>T (CD300LF)	NP_001276014.1:p.Leu202=
NM_001289086.1:c.628G>T (CD300LF)	NP_001276015.1:p.Gly210Ter
NM_001289087.1:c.574G>T (CD300LF)	NP_001276016.1:p.Gly192Ter
NM_139018.4:c.597G>T (CD300LF)	NP_620587.2:p.Leu199=
NM_175738.4:c.72+24187C>A (RAB37)	NP_783865.1:n.72+24187C>A
NR_110298.1:n.769G>T (CD300LF)
XM_011524369.1:c.729G>T (CD300LF)	XP_011522671.1:p.Leu243=
XM_011524370.1:c.720G>T (CD300LF)	XP_011522672.1:p.Leu240=
XM_011524371.1:c.720G>T (CD300LF)	XP_011522673.1:p.Leu240=
XM_011524372.1:c.684G>T (CD300LF)	XP_011522674.1:p.Leu228=
XM_011524373.1:c.675G>T (CD300LF)	XP_011522675.1:p.Leu225=
XM_011524374.1:c.675G>T (CD300LF)	XP_011522676.1:p.Leu225=
XM_011524375.1:c.651G>T (CD300LF)	XP_011522677.1:p.Leu217=
XM_011524376.1:c.706G>T (CD300LF)	XP_011522678.1:p.Gly236Ter
XM_011524377.1:c.706G>T (CD300LF)	XP_011522679.1:p.Gly236Ter
XM_011524378.1:c.697G>T (CD300LF)	XP_011522680.1:p.Gly233Ter
XM_011524379.1:c.661G>T (CD300LF)	XP_011522681.1:p.Gly221Ter
XM_017024212.2:c.654G>T (CD300LF)	XP_016879701.1:p.Leu218=
XM_017024213.2:c.709G>T (CD300LF)	XP_016879702.1:p.Gly237Ter
XM_017024214.2:c.700G>T (CD300LF)	XP_016879703.1:p.Gly234Ter
XM_017024215.1:c.652G>T (CD300LF)	XP_016879704.1:p.Gly218Ter
XM_017024216.2:c.631G>T (CD300LF)	XP_016879705.1:p.Gly211Ter
XM_017024217.2:c.619G>T (CD300LF)	XP_016879706.1:p.Gly207Ter
NM_139018.5:c.597G>T (CD300LF) MANE Select	NP_620587.2:p.Leu199=
NM_001289082.2:c.493G>T (CD300LF)	NP_001276011.1:p.Gly165Ter
NM_001289083.2:c.643G>T (CD300LF)	NP_001276012.1:p.Gly215Ter
NM_001289084.2:c.642G>T (CD300LF)	NP_001276013.1:p.Leu214=
NM_001289085.2:c.606G>T (CD300LF)	NP_001276014.1:p.Leu202=
NM_001289086.2:c.628G>T (CD300LF)	NP_001276015.1:p.Gly210Ter
NM_001289087.2:c.574G>T (CD300LF)	NP_001276016.1:p.Gly192Ter
NM_175738.5:c.72+24187C>A (RAB37)	NP_783865.1:n.72+24187C>A
NR_110298.2:n.692G>T (CD300LF)