Canonical Allele Identifier: CA308101590
Community Standard Title: NM_001039672.3(YIF1B):c.569C>A (p.Ala190Glu)
Gene: YIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38307723G>T , CM000681.2:g.38307723G>T GRCh38
NC_000019.9:g.38798363G>T , CM000681.1:g.38798363G>T GRCh37
NC_000019.8:g.43490203G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001039672.3:c.569C>A MANE Select NP_001034761.1:p.Ala190Glu
ENST00000339413.11:c.569C>A MANE Select ENSP00000343435.5:p.Ala190Glu
NM_001039671.2:c.524C>A NP_001034760.1:p.Ala175Glu
NM_001039671.3:c.524C>A NP_001034760.1:p.Ala175Glu
NM_001039672.2:c.569C>A NP_001034761.1:p.Ala190Glu
NM_001039673.2:c.560C>A NP_001034762.1:p.Ala187Glu
NM_001039673.3:c.560C>A NP_001034762.1:p.Ala187Glu
NM_001145461.1:c.518C>A NP_001138933.1:p.Ala173Glu
NM_001145461.2:c.518C>A NP_001138933.1:p.Ala173Glu
NM_001145462.1:c.476C>A NP_001138934.1:p.Ala159Glu
NM_001145462.2:c.476C>A NP_001138934.1:p.Ala159Glu
NM_001145463.1:c.560C>A NP_001138935.1:p.Ala187Glu
NM_001145463.2:c.560C>A NP_001138935.1:p.Ala187Glu
ENST00000329420.12:c.524C>A ENSP00000329559.7:p.Ala175Glu
ENST00000337679.12:c.560C>A ENSP00000337411.7:p.Ala187Glu
ENST00000339413.10:c.569C>A ENSP00000343435.5:p.Ala190Glu
ENST00000392124.7:c.476C>A ENSP00000375971.2:p.Ala159Glu
ENST00000585563.5:n.823C>A
ENST00000586319.5:n.249C>A
ENST00000588002.5:c.482-202C>A
ENST00000589247.1:c.518C>A ENSP00000468463.1:p.Ala173Glu
ENST00000589644.1:n.956C>A
ENST00000591755.5:c.560C>A ENSP00000465446.1:p.Ala187Glu
ENST00000591784.5:c.476C>A ENSP00000465230.1:p.Ala159Glu
ENST00000592246.5:c.371C>A ENSP00000467489.1:p.Ala124Glu
ENST00000592694.5:c.476C>A ENSP00000466428.1:p.Ala159Glu
XM_005259385.2:c.476C>A XP_005259442.1:p.Ala159Glu
XM_005259385.4:c.476C>A XP_005259442.1:p.Ala159Glu
XM_011527467.1:c.560C>A XP_011525769.1:p.Ala187Glu
XM_017027449.1:c.560C>A XP_016882938.1:p.Ala187Glu
XM_017027450.1:c.569C>A XP_016882939.1:p.Ala190Glu
XM_017027451.1:c.524C>A XP_016882940.1:p.Ala175Glu