Canonical Allele Identifier: CA341966249
Community Standard Title: NM_001330723.2(SNX27):c.1072C>T (p.Arg358Ter)
Gene: SNX27 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151668558C>T , CM000663.2:g.151668558C>T GRCh38
NC_000001.10:g.151641034C>T , CM000663.1:g.151641034C>T GRCh37
NC_000001.9:g.149907658C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001330723.2:c.1072C>T MANE Select NP_001317652.1:p.Arg358Ter
ENST00000458013.7:c.1072C>T MANE Select ENSP00000400333.2:p.Arg358Ter
NM_001330723.1:c.1072C>T NP_001317652.1:p.Arg358Ter
NM_030918.5:c.1072C>T NP_112180.4:p.Arg358Ter
NM_030918.6:c.1072C>T NP_112180.4:p.Arg358Ter
ENST00000368838.1:c.793C>T ENSP00000357831.1:p.Arg265Ter
ENST00000368838.2:c.669C>T
ENST00000368841.6:c.*743C>T ENSP00000357834.2:n.*743C>T
ENST00000368841.7:c.*743C>T ENSP00000357834.2:n.*743C>T
ENST00000368843.7:c.1072C>T ENSP00000357836.3:p.Arg358Ter
ENST00000368843.8:c.1072C>T ENSP00000357836.3:p.Arg358Ter
ENST00000458013.6:c.1072C>T ENSP00000400333.2:p.Arg358Ter
ENST00000482791.1:n.193C>T
ENST00000482791.2:c.395C>T
ENST00000642349.1:c.806C>T ENSP00000494331.1:n.806C>T
ENST00000642376.1:c.709C>T ENSP00000496645.1:p.Arg237Ter
ENST00000642479.1:c.*450C>T ENSP00000496775.1:n.*450C>T
ENST00000643179.1:n.880C>T
ENST00000643937.1:n.750C>T
ENST00000644113.1:n.756C>T
ENST00000644970.1:n.1070C>T
ENST00000647328.1:n.793C>T
XM_005245509.1:c.1072C>T XP_005245566.1:p.Arg358Ter
XM_005245510.2:c.763C>T XP_005245567.1:p.Arg255Ter
XM_005245510.3:c.763C>T XP_005245567.1:p.Arg255Ter
XM_005245511.3:c.514C>T XP_005245568.1:p.Arg172Ter
XM_005245511.4:c.514C>T XP_005245568.1:p.Arg172Ter
XM_011510024.1:c.769C>T XP_011508326.1:p.Arg257Ter
XM_011510024.2:c.769C>T XP_011508326.1:p.Arg257Ter
XM_011510025.1:c.709C>T XP_011508327.1:p.Arg237Ter
XM_011510025.2:c.709C>T XP_011508327.1:p.Arg237Ter
XM_011510026.1:c.1072C>T XP_011508328.1:p.Arg358Ter
XM_011510026.2:c.1072C>T XP_011508328.1:p.Arg358Ter
XM_017002417.1:c.709C>T XP_016857906.1:p.Arg237Ter
XM_024450038.1:c.514C>T XP_024305806.1:p.Arg172Ter
XM_024450039.1:c.514C>T XP_024305807.1:p.Arg172Ter