Canonical Allele Identifier: CA175024874
Gene: RAB11FIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37872278A>G , CM000670.2:g.37872278A>G GRCh38
NC_000008.10:g.37729796A>G , CM000670.1:g.37729796A>G GRCh37
NC_000008.9:g.37848954A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001002814.3:c.2524T>C MANE Select NP_001002814.2:p.Trp842Arg
ENST00000330843.9:c.2524T>C MANE Select ENSP00000331342.4:p.Trp842Arg
NM_001002814.2:c.2524T>C NP_001002814.2:p.Trp842Arg
NM_025151.4:c.1623-1750T>C NP_079427.4:n.1623-1750T>C
NM_025151.5:c.1623-1750T>C NP_079427.4:n.1623-1750T>C
ENST00000287263.8:c.1623-1750T>C ENSP00000287263.4:n.1623-1750T>C
ENST00000330843.8:c.2524T>C ENSP00000331342.4:p.Trp842Arg
ENST00000522727.5:c.1179-1750T>C ENSP00000430009.1:n.1179-1750T>C
ENST00000522774.1:n.1001T>C
ENST00000523182.5:n.1001T>C
ENST00000524118.1:c.1179-1750T>C ENSP00000430680.1:n.1179-1750T>C
XM_017013869.2:c.2524T>C XP_016869358.1:p.Trp842Arg