Canonical Allele Identifier: CA341973317
Community Standard Title: NM_001330723.2(SNX27):c.1492C>T (p.Arg498Ter)
Gene: SNX27 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151693013C>T , CM000663.2:g.151693013C>T GRCh38
NC_000001.10:g.151665489C>T , CM000663.1:g.151665489C>T GRCh37
NC_000001.9:g.149932113C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001330723.2:c.1492C>T MANE Select NP_001317652.1:p.Arg498Ter
ENST00000458013.7:c.1492C>T MANE Select ENSP00000400333.2:p.Arg498Ter
NM_001330723.1:c.1492C>T NP_001317652.1:p.Arg498Ter
NM_030918.5:c.1492C>T NP_112180.4:p.Arg498Ter
NM_030918.6:c.1492C>T NP_112180.4:p.Arg498Ter
ENST00000368838.1:c.1213C>T ENSP00000357831.1:p.Arg405Ter
ENST00000368838.2:c.1089C>T
ENST00000368841.6:c.*1163C>T ENSP00000357834.2:n.*1163C>T
ENST00000368841.7:c.*1163C>T ENSP00000357834.2:n.*1163C>T
ENST00000368843.7:c.1492C>T ENSP00000357836.3:p.Arg498Ter
ENST00000368843.8:c.1492C>T ENSP00000357836.3:p.Arg498Ter
ENST00000458013.6:c.1492C>T ENSP00000400333.2:p.Arg498Ter
ENST00000642349.1:c.1226C>T ENSP00000494331.1:n.1226C>T
ENST00000642376.1:c.1129C>T ENSP00000496645.1:p.Arg377Ter
ENST00000642479.1:c.*870C>T ENSP00000496775.1:n.*870C>T
ENST00000643179.1:n.1300C>T
ENST00000643937.1:n.1170C>T
ENST00000644970.1:n.1490C>T
ENST00000647328.1:n.1213C>T
ENST00000647551.1:n.4941C>T
XM_005245509.1:c.1492C>T XP_005245566.1:p.Arg498Ter
XM_005245510.2:c.1183C>T XP_005245567.1:p.Arg395Ter
XM_005245510.3:c.1183C>T XP_005245567.1:p.Arg395Ter
XM_005245511.3:c.934C>T XP_005245568.1:p.Arg312Ter
XM_005245511.4:c.934C>T XP_005245568.1:p.Arg312Ter
XM_011510024.1:c.1189C>T XP_011508326.1:p.Arg397Ter
XM_011510024.2:c.1189C>T XP_011508326.1:p.Arg397Ter
XM_011510025.1:c.1129C>T XP_011508327.1:p.Arg377Ter
XM_011510025.2:c.1129C>T XP_011508327.1:p.Arg377Ter
XM_017002417.1:c.1129C>T XP_016857906.1:p.Arg377Ter
XM_024450038.1:c.934C>T XP_024305806.1:p.Arg312Ter
XM_024450039.1:c.934C>T XP_024305807.1:p.Arg312Ter