Canonical Allele Identifier: CA1093457
Community Standard Title: NM_001330723.2(SNX27):c.703C>T (p.Arg235Ter)
Gene: SNX27 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151658394C>T , CM000663.2:g.151658394C>T GRCh38
NC_000001.10:g.151630870C>T , CM000663.1:g.151630870C>T GRCh37
NC_000001.9:g.149897494C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001330723.2:c.703C>T MANE Select NP_001317652.1:p.Arg235Ter
ENST00000458013.7:c.703C>T MANE Select ENSP00000400333.2:p.Arg235Ter
NM_001330723.1:c.703C>T NP_001317652.1:p.Arg235Ter
NM_030918.5:c.703C>T NP_112180.4:p.Arg235Ter
NM_030918.6:c.703C>T NP_112180.4:p.Arg235Ter
ENST00000368838.1:c.424C>T ENSP00000357831.1:p.Arg142Ter
ENST00000368838.2:c.300C>T
ENST00000368841.6:c.*374C>T ENSP00000357834.2:n.*374C>T
ENST00000368841.7:c.*374C>T ENSP00000357834.2:n.*374C>T
ENST00000368843.7:c.703C>T ENSP00000357836.3:p.Arg235Ter
ENST00000368843.8:c.703C>T ENSP00000357836.3:p.Arg235Ter
ENST00000458013.6:c.703C>T ENSP00000400333.2:p.Arg235Ter
ENST00000482791.2:c.26C>T
ENST00000642349.1:c.437C>T ENSP00000494331.1:n.437C>T
ENST00000642376.1:c.340C>T ENSP00000496645.1:p.Arg114Ter
ENST00000642479.1:c.*81C>T ENSP00000496775.1:n.*81C>T
ENST00000642582.1:n.419C>T
ENST00000643179.1:n.511C>T
ENST00000643814.1:n.424C>T
ENST00000643845.1:n.160C>T
ENST00000644113.1:n.387C>T
ENST00000644970.1:n.701C>T
ENST00000647328.1:n.424C>T
ENST00000647454.1:n.152C>T
XM_005245509.1:c.703C>T XP_005245566.1:p.Arg235Ter
XM_005245510.2:c.394C>T XP_005245567.1:p.Arg132Ter
XM_005245510.3:c.394C>T XP_005245567.1:p.Arg132Ter
XM_005245511.3:c.145C>T XP_005245568.1:p.Arg49Ter
XM_005245511.4:c.145C>T XP_005245568.1:p.Arg49Ter
XM_011510024.1:c.400C>T XP_011508326.1:p.Arg134Ter
XM_011510024.2:c.400C>T XP_011508326.1:p.Arg134Ter
XM_011510025.1:c.340C>T XP_011508327.1:p.Arg114Ter
XM_011510025.2:c.340C>T XP_011508327.1:p.Arg114Ter
XM_011510026.1:c.703C>T XP_011508328.1:p.Arg235Ter
XM_011510026.2:c.703C>T XP_011508328.1:p.Arg235Ter
XM_017002417.1:c.340C>T XP_016857906.1:p.Arg114Ter
XM_024450038.1:c.145C>T XP_024305806.1:p.Arg49Ter
XM_024450039.1:c.145C>T XP_024305807.1:p.Arg49Ter