Canonical Allele Identifier: CA341972964
Community Standard Title: NM_001330723.2(SNX27):c.1431G>A (p.Trp477Ter)
Gene: SNX27 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151692952G>A , CM000663.2:g.151692952G>A GRCh38
NC_000001.10:g.151665428G>A , CM000663.1:g.151665428G>A GRCh37
NC_000001.9:g.149932052G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001330723.2:c.1431G>A MANE Select NP_001317652.1:p.Trp477Ter
ENST00000458013.7:c.1431G>A MANE Select ENSP00000400333.2:p.Trp477Ter
NM_001330723.1:c.1431G>A NP_001317652.1:p.Trp477Ter
NM_030918.5:c.1431G>A NP_112180.4:p.Trp477Ter
NM_030918.6:c.1431G>A NP_112180.4:p.Trp477Ter
ENST00000368838.1:c.1152G>A ENSP00000357831.1:p.Trp384Ter
ENST00000368838.2:c.1028G>A
ENST00000368841.6:c.*1102G>A ENSP00000357834.2:n.*1102G>A
ENST00000368841.7:c.*1102G>A ENSP00000357834.2:n.*1102G>A
ENST00000368843.7:c.1431G>A ENSP00000357836.3:p.Trp477Ter
ENST00000368843.8:c.1431G>A ENSP00000357836.3:p.Trp477Ter
ENST00000458013.6:c.1431G>A ENSP00000400333.2:p.Trp477Ter
ENST00000642349.1:c.1165G>A ENSP00000494331.1:n.1165G>A
ENST00000642376.1:c.1068G>A ENSP00000496645.1:p.Trp356Ter
ENST00000642479.1:c.*809G>A ENSP00000496775.1:n.*809G>A
ENST00000643179.1:n.1239G>A
ENST00000643937.1:n.1109G>A
ENST00000644970.1:n.1429G>A
ENST00000647328.1:n.1152G>A
ENST00000647551.1:n.4880G>A
XM_005245509.1:c.1431G>A XP_005245566.1:p.Trp477Ter
XM_005245510.2:c.1122G>A XP_005245567.1:p.Trp374Ter
XM_005245510.3:c.1122G>A XP_005245567.1:p.Trp374Ter
XM_005245511.3:c.873G>A XP_005245568.1:p.Trp291Ter
XM_005245511.4:c.873G>A XP_005245568.1:p.Trp291Ter
XM_011510024.1:c.1128G>A XP_011508326.1:p.Trp376Ter
XM_011510024.2:c.1128G>A XP_011508326.1:p.Trp376Ter
XM_011510025.1:c.1068G>A XP_011508327.1:p.Trp356Ter
XM_011510025.2:c.1068G>A XP_011508327.1:p.Trp356Ter
XM_017002417.1:c.1068G>A XP_016857906.1:p.Trp356Ter
XM_024450038.1:c.873G>A XP_024305806.1:p.Trp291Ter
XM_024450039.1:c.873G>A XP_024305807.1:p.Trp291Ter