Canonical Allele Identifier: CA8749764

Gene: CD300LF RAB37

Linked Data

• dbSNP Id: rs748585405
• ExAC: 17:72691938 T / C
• gnomAD v2: 17-72691938-T-C
• gnomAD v4: 17-74695799-T-C
• MyVariant Identifiers: chr17:g.72691938T>C (hg19) ; chr17:g.74695799T>C (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74695799T>C , CM000679.2:g.74695799T>C	GRCh38
NC_000017.10:g.72691938T>C , CM000679.1:g.72691938T>C	GRCh37
NC_000017.9:g.70203533T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326165.11:c.643A>G (CD300LF) MANE Select	ENSP00000327075.6:p.Thr215Ala
ENST00000301573.13:c.689A>G (CD300LF)	ENSP00000301573.9:p.Asn230Ser
ENST00000326165.10:c.643A>G (CD300LF)	ENSP00000327075.6:p.Thr215Ala
ENST00000340415.7:c.72+24141T>C (RAB37)	ENSP00000341354.3:n.72+24141T>C
ENST00000343125.8:c.539A>G (CD300LF)	ENSP00000343751.4:p.Asn180Ser
ENST00000361254.8:c.674A>G (CD300LF)	ENSP00000355294.4:p.Asn225Ser
ENST00000392617.7:n.479+24141T>C (RAB37)
ENST00000402449.8:c.72+24141T>C (RAB37)	ENSP00000383934.4:n.72+24141T>C
ENST00000462044.5:c.*18A>G (CD300LF)	ENSP00000464223.1:n.*18A>G
ENST00000464910.5:c.652A>G (CD300LF)	ENSP00000464257.1:p.Thr218Ala
ENST00000469092.5:c.539A>G (CD300LF)	ENSP00000463743.1:p.Asn180Ser
ENST00000581500.1:c.674A>G (CD300LF)	ENSP00000464610.1:p.Asn225Ser
ENST00000583937.5:c.688A>G (CD300LF)	ENSP00000462309.1:p.Thr230Ala
NM_001289082.1:c.539A>G (CD300LF)	NP_001276011.1:p.Asn180Ser
NM_001289083.1:c.689A>G (CD300LF)	NP_001276012.1:p.Asn230Ser
NM_001289084.1:c.688A>G (CD300LF)	NP_001276013.1:p.Thr230Ala
NM_001289085.1:c.652A>G (CD300LF)	NP_001276014.1:p.Thr218Ala
NM_001289086.1:c.674A>G (CD300LF)	NP_001276015.1:p.Asn225Ser
NM_001289087.1:c.620A>G (CD300LF)	NP_001276016.1:p.Asn207Ser
NM_139018.4:c.643A>G (CD300LF)	NP_620587.2:p.Thr215Ala
NM_175738.4:c.72+24141T>C (RAB37)	NP_783865.1:n.72+24141T>C
NR_110298.1:n.815A>G (CD300LF)
XM_011524369.1:c.775A>G (CD300LF)	XP_011522671.1:p.Thr259Ala
XM_011524370.1:c.766A>G (CD300LF)	XP_011522672.1:p.Thr256Ala
XM_011524371.1:c.766A>G (CD300LF)	XP_011522673.1:p.Thr256Ala
XM_011524372.1:c.730A>G (CD300LF)	XP_011522674.1:p.Thr244Ala
XM_011524373.1:c.721A>G (CD300LF)	XP_011522675.1:p.Thr241Ala
XM_011524374.1:c.721A>G (CD300LF)	XP_011522676.1:p.Thr241Ala
XM_011524375.1:c.697A>G (CD300LF)	XP_011522677.1:p.Thr233Ala
XM_011524376.1:c.752A>G (CD300LF)	XP_011522678.1:p.Asn251Ser
XM_011524377.1:c.752A>G (CD300LF)	XP_011522679.1:p.Asn251Ser
XM_011524378.1:c.743A>G (CD300LF)	XP_011522680.1:p.Asn248Ser
XM_011524379.1:c.707A>G (CD300LF)	XP_011522681.1:p.Asn236Ser
XM_017024212.2:c.700A>G (CD300LF)	XP_016879701.1:p.Thr234Ala
XM_017024213.2:c.755A>G (CD300LF)	XP_016879702.1:p.Asn252Ser
XM_017024214.2:c.746A>G (CD300LF)	XP_016879703.1:p.Asn249Ser
XM_017024215.1:c.698A>G (CD300LF)	XP_016879704.1:p.Asn233Ser
XM_017024216.2:c.677A>G (CD300LF)	XP_016879705.1:p.Asn226Ser
XM_017024217.2:c.665A>G (CD300LF)	XP_016879706.1:p.Asn222Ser
NM_139018.5:c.643A>G (CD300LF) MANE Select	NP_620587.2:p.Thr215Ala
NM_001289082.2:c.539A>G (CD300LF)	NP_001276011.1:p.Asn180Ser
NM_001289083.2:c.689A>G (CD300LF)	NP_001276012.1:p.Asn230Ser
NM_001289084.2:c.688A>G (CD300LF)	NP_001276013.1:p.Thr230Ala
NM_001289085.2:c.652A>G (CD300LF)	NP_001276014.1:p.Thr218Ala
NM_001289086.2:c.674A>G (CD300LF)	NP_001276015.1:p.Asn225Ser
NM_001289087.2:c.620A>G (CD300LF)	NP_001276016.1:p.Asn207Ser
NM_175738.5:c.72+24141T>C (RAB37)	NP_783865.1:n.72+24141T>C
NR_110298.2:n.738A>G (CD300LF)