Canonical Allele Identifier: CA400935143

Gene: CD300LF RAB37

Linked Data

• gnomAD v4: 17-74695820-G-A
• MyVariant Identifiers: chr17:g.72691959G>A (hg19) ; chr17:g.74695820G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695820G>A , CM000679.2:g.74695820G>A	GRCh38
NC_000017.10:g.72691959G>A , CM000679.1:g.72691959G>A	GRCh37
NC_000017.9:g.70203554G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.622C>T (CD300LF) MANE Select	ENSP00000327075.6:p.Leu208=
ENST00000301573.13:c.668C>T (CD300LF)	ENSP00000301573.9:p.Pro223Leu
ENST00000326165.10:c.622C>T (CD300LF)	ENSP00000327075.6:p.Leu208=
ENST00000340415.7:c.72+24162G>A (RAB37)	ENSP00000341354.3:n.72+24162G>A
ENST00000343125.8:c.518C>T (CD300LF)	ENSP00000343751.4:p.Pro173Leu
ENST00000361254.8:c.653C>T (CD300LF)	ENSP00000355294.4:p.Pro218Leu
ENST00000392617.7:n.479+24162G>A (RAB37)
ENST00000402449.8:c.72+24162G>A (RAB37)	ENSP00000383934.4:n.72+24162G>A
ENST00000462044.5:c.495C>T (CD300LF)	ENSP00000464223.1:p.Thr165=
ENST00000464910.5:c.631C>T (CD300LF)	ENSP00000464257.1:p.Leu211=
ENST00000469092.5:c.518C>T (CD300LF)	ENSP00000463743.1:p.Pro173Leu
ENST00000581500.1:c.653C>T (CD300LF)	ENSP00000464610.1:p.Pro218Leu
ENST00000583937.5:c.667C>T (CD300LF)	ENSP00000462309.1:p.Leu223=
NM_001289082.1:c.518C>T (CD300LF)	NP_001276011.1:p.Pro173Leu
NM_001289083.1:c.668C>T (CD300LF)	NP_001276012.1:p.Pro223Leu
NM_001289084.1:c.667C>T (CD300LF)	NP_001276013.1:p.Leu223=
NM_001289085.1:c.631C>T (CD300LF)	NP_001276014.1:p.Leu211=
NM_001289086.1:c.653C>T (CD300LF)	NP_001276015.1:p.Pro218Leu
NM_001289087.1:c.599C>T (CD300LF)	NP_001276016.1:p.Pro200Leu
NM_139018.4:c.622C>T (CD300LF)	NP_620587.2:p.Leu208=
NM_175738.4:c.72+24162G>A (RAB37)	NP_783865.1:n.72+24162G>A
NR_110298.1:n.794C>T (CD300LF)
XM_011524369.1:c.754C>T (CD300LF)	XP_011522671.1:p.Leu252=
XM_011524370.1:c.745C>T (CD300LF)	XP_011522672.1:p.Leu249=
XM_011524371.1:c.745C>T (CD300LF)	XP_011522673.1:p.Leu249=
XM_011524372.1:c.709C>T (CD300LF)	XP_011522674.1:p.Leu237=
XM_011524373.1:c.700C>T (CD300LF)	XP_011522675.1:p.Leu234=
XM_011524374.1:c.700C>T (CD300LF)	XP_011522676.1:p.Leu234=
XM_011524375.1:c.676C>T (CD300LF)	XP_011522677.1:p.Leu226=
XM_011524376.1:c.731C>T (CD300LF)	XP_011522678.1:p.Pro244Leu
XM_011524377.1:c.731C>T (CD300LF)	XP_011522679.1:p.Pro244Leu
XM_011524378.1:c.722C>T (CD300LF)	XP_011522680.1:p.Pro241Leu
XM_011524379.1:c.686C>T (CD300LF)	XP_011522681.1:p.Pro229Leu
XM_017024212.2:c.679C>T (CD300LF)	XP_016879701.1:p.Leu227=
XM_017024213.2:c.734C>T (CD300LF)	XP_016879702.1:p.Pro245Leu
XM_017024214.2:c.725C>T (CD300LF)	XP_016879703.1:p.Pro242Leu
XM_017024215.1:c.677C>T (CD300LF)	XP_016879704.1:p.Pro226Leu
XM_017024216.2:c.656C>T (CD300LF)	XP_016879705.1:p.Pro219Leu
XM_017024217.2:c.644C>T (CD300LF)	XP_016879706.1:p.Pro215Leu
NM_139018.5:c.622C>T (CD300LF) MANE Select	NP_620587.2:p.Leu208=
NM_001289082.2:c.518C>T (CD300LF)	NP_001276011.1:p.Pro173Leu
NM_001289083.2:c.668C>T (CD300LF)	NP_001276012.1:p.Pro223Leu
NM_001289084.2:c.667C>T (CD300LF)	NP_001276013.1:p.Leu223=
NM_001289085.2:c.631C>T (CD300LF)	NP_001276014.1:p.Leu211=
NM_001289086.2:c.653C>T (CD300LF)	NP_001276015.1:p.Pro218Leu
NM_001289087.2:c.599C>T (CD300LF)	NP_001276016.1:p.Pro200Leu
NM_175738.5:c.72+24162G>A (RAB37)	NP_783865.1:n.72+24162G>A
NR_110298.2:n.717C>T (CD300LF)