Canonical Allele Identifier: CA341969782
Community Standard Title: NM_001330723.2(SNX27):c.1237A>C (p.Met413Leu)
Gene: SNX27 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.151683443A>C , CM000663.2:g.151683443A>C GRCh38
NC_000001.10:g.151655919A>C , CM000663.1:g.151655919A>C GRCh37
NC_000001.9:g.149922543A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001330723.2:c.1237A>C MANE Select NP_001317652.1:p.Met413Leu
ENST00000458013.7:c.1237A>C MANE Select ENSP00000400333.2:p.Met413Leu
NM_001330723.1:c.1237A>C NP_001317652.1:p.Met413Leu
NM_030918.5:c.1237A>C NP_112180.4:p.Met413Leu
NM_030918.6:c.1237A>C NP_112180.4:p.Met413Leu
ENST00000368838.1:c.958A>C ENSP00000357831.1:p.Met320Leu
ENST00000368838.2:c.834A>C
ENST00000368841.6:c.*908A>C ENSP00000357834.2:n.*908A>C
ENST00000368841.7:c.*908A>C ENSP00000357834.2:n.*908A>C
ENST00000368843.7:c.1237A>C ENSP00000357836.3:p.Met413Leu
ENST00000368843.8:c.1237A>C ENSP00000357836.3:p.Met413Leu
ENST00000458013.6:c.1237A>C ENSP00000400333.2:p.Met413Leu
ENST00000642349.1:c.971A>C ENSP00000494331.1:n.971A>C
ENST00000642376.1:c.874A>C ENSP00000496645.1:p.Met292Leu
ENST00000642479.1:c.*615A>C ENSP00000496775.1:n.*615A>C
ENST00000643179.1:n.1045A>C
ENST00000643937.1:n.915A>C
ENST00000644113.1:n.921A>C
ENST00000644970.1:n.1235A>C
ENST00000647328.1:n.958A>C
ENST00000647551.1:n.4686A>C
XM_005245509.1:c.1237A>C XP_005245566.1:p.Met413Leu
XM_005245510.2:c.928A>C XP_005245567.1:p.Met310Leu
XM_005245510.3:c.928A>C XP_005245567.1:p.Met310Leu
XM_005245511.3:c.679A>C XP_005245568.1:p.Met227Leu
XM_005245511.4:c.679A>C XP_005245568.1:p.Met227Leu
XM_011510024.1:c.934A>C XP_011508326.1:p.Met312Leu
XM_011510024.2:c.934A>C XP_011508326.1:p.Met312Leu
XM_011510025.1:c.874A>C XP_011508327.1:p.Met292Leu
XM_011510025.2:c.874A>C XP_011508327.1:p.Met292Leu
XM_017002417.1:c.874A>C XP_016857906.1:p.Met292Leu
XM_024450038.1:c.679A>C XP_024305806.1:p.Met227Leu
XM_024450039.1:c.679A>C XP_024305807.1:p.Met227Leu