Canonical Allele Identifier: CA341958796
Community Standard Title: NM_001330723.2(SNX27):c.652C>T (p.Arg218Ter)
Gene: SNX27 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151658343C>T , CM000663.2:g.151658343C>T GRCh38
NC_000001.10:g.151630819C>T , CM000663.1:g.151630819C>T GRCh37
NC_000001.9:g.149897443C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001330723.2:c.652C>T MANE Select NP_001317652.1:p.Arg218Ter
ENST00000458013.7:c.652C>T MANE Select ENSP00000400333.2:p.Arg218Ter
NM_001330723.1:c.652C>T NP_001317652.1:p.Arg218Ter
NM_030918.5:c.652C>T NP_112180.4:p.Arg218Ter
NM_030918.6:c.652C>T NP_112180.4:p.Arg218Ter
ENST00000368838.1:c.373C>T ENSP00000357831.1:p.Arg125Ter
ENST00000368838.2:c.249C>T
ENST00000368841.6:c.*323C>T ENSP00000357834.2:n.*323C>T
ENST00000368841.7:c.*323C>T ENSP00000357834.2:n.*323C>T
ENST00000368843.7:c.652C>T ENSP00000357836.3:p.Arg218Ter
ENST00000368843.8:c.652C>T ENSP00000357836.3:p.Arg218Ter
ENST00000458013.6:c.652C>T ENSP00000400333.2:p.Arg218Ter
ENST00000642349.1:c.386C>T ENSP00000494331.1:n.386C>T
ENST00000642376.1:c.289C>T ENSP00000496645.1:p.Arg97Ter
ENST00000642479.1:c.*30C>T ENSP00000496775.1:n.*30C>T
ENST00000642582.1:n.368C>T
ENST00000643179.1:n.460C>T
ENST00000643814.1:n.373C>T
ENST00000643845.1:n.109C>T
ENST00000644113.1:n.336C>T
ENST00000644970.1:n.650C>T
ENST00000647328.1:n.373C>T
ENST00000647454.1:n.101C>T
XM_005245509.1:c.652C>T XP_005245566.1:p.Arg218Ter
XM_005245510.2:c.343C>T XP_005245567.1:p.Arg115Ter
XM_005245510.3:c.343C>T XP_005245567.1:p.Arg115Ter
XM_005245511.3:c.94C>T XP_005245568.1:p.Arg32Ter
XM_005245511.4:c.94C>T XP_005245568.1:p.Arg32Ter
XM_011510024.1:c.349C>T XP_011508326.1:p.Arg117Ter
XM_011510024.2:c.349C>T XP_011508326.1:p.Arg117Ter
XM_011510025.1:c.289C>T XP_011508327.1:p.Arg97Ter
XM_011510025.2:c.289C>T XP_011508327.1:p.Arg97Ter
XM_011510026.1:c.652C>T XP_011508328.1:p.Arg218Ter
XM_011510026.2:c.652C>T XP_011508328.1:p.Arg218Ter
XM_017002417.1:c.289C>T XP_016857906.1:p.Arg97Ter
XM_024450038.1:c.94C>T XP_024305806.1:p.Arg32Ter
XM_024450039.1:c.94C>T XP_024305807.1:p.Arg32Ter