Canonical Allele Identifier: CA341973191
Community Standard Title: NM_001330723.2(SNX27):c.1474C>T (p.Arg492Ter)
Gene: SNX27 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151692995C>T , CM000663.2:g.151692995C>T GRCh38
NC_000001.10:g.151665471C>T , CM000663.1:g.151665471C>T GRCh37
NC_000001.9:g.149932095C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001330723.2:c.1474C>T MANE Select NP_001317652.1:p.Arg492Ter
ENST00000458013.7:c.1474C>T MANE Select ENSP00000400333.2:p.Arg492Ter
NM_001330723.1:c.1474C>T NP_001317652.1:p.Arg492Ter
NM_030918.5:c.1474C>T NP_112180.4:p.Arg492Ter
NM_030918.6:c.1474C>T NP_112180.4:p.Arg492Ter
ENST00000368838.1:c.1195C>T ENSP00000357831.1:p.Arg399Ter
ENST00000368838.2:c.1071C>T
ENST00000368841.6:c.*1145C>T ENSP00000357834.2:n.*1145C>T
ENST00000368841.7:c.*1145C>T ENSP00000357834.2:n.*1145C>T
ENST00000368843.7:c.1474C>T ENSP00000357836.3:p.Arg492Ter
ENST00000368843.8:c.1474C>T ENSP00000357836.3:p.Arg492Ter
ENST00000458013.6:c.1474C>T ENSP00000400333.2:p.Arg492Ter
ENST00000642349.1:c.1208C>T ENSP00000494331.1:n.1208C>T
ENST00000642376.1:c.1111C>T ENSP00000496645.1:p.Arg371Ter
ENST00000642479.1:c.*852C>T ENSP00000496775.1:n.*852C>T
ENST00000643179.1:n.1282C>T
ENST00000643937.1:n.1152C>T
ENST00000644970.1:n.1472C>T
ENST00000647328.1:n.1195C>T
ENST00000647551.1:n.4923C>T
XM_005245509.1:c.1474C>T XP_005245566.1:p.Arg492Ter
XM_005245510.2:c.1165C>T XP_005245567.1:p.Arg389Ter
XM_005245510.3:c.1165C>T XP_005245567.1:p.Arg389Ter
XM_005245511.3:c.916C>T XP_005245568.1:p.Arg306Ter
XM_005245511.4:c.916C>T XP_005245568.1:p.Arg306Ter
XM_011510024.1:c.1171C>T XP_011508326.1:p.Arg391Ter
XM_011510024.2:c.1171C>T XP_011508326.1:p.Arg391Ter
XM_011510025.1:c.1111C>T XP_011508327.1:p.Arg371Ter
XM_011510025.2:c.1111C>T XP_011508327.1:p.Arg371Ter
XM_017002417.1:c.1111C>T XP_016857906.1:p.Arg371Ter
XM_024450038.1:c.916C>T XP_024305806.1:p.Arg306Ter
XM_024450039.1:c.916C>T XP_024305807.1:p.Arg306Ter