Canonical Allele Identifier: CA341973268

Gene: SNX27

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151693007A>C , CM000663.2:g.151693007A>C	GRCh38
NC_000001.10:g.151665483A>C , CM000663.1:g.151665483A>C	GRCh37
NC_000001.9:g.149932107A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368838.2:c.1083A>C
ENST00000368841.7:c.*1157A>C	ENSP00000357834.2:n.*1157A>C
ENST00000368843.8:c.1486A>C	ENSP00000357836.3:p.Lys496Gln
ENST00000458013.7:c.1486A>C MANE Select	ENSP00000400333.2:p.Lys496Gln
ENST00000642349.1:c.1220A>C	ENSP00000494331.1:n.1220A>C
ENST00000642376.1:c.1123A>C	ENSP00000496645.1:p.Lys375Gln
ENST00000642479.1:c.*864A>C	ENSP00000496775.1:n.*864A>C
ENST00000643179.1:n.1294A>C
ENST00000643937.1:n.1164A>C
ENST00000644970.1:n.1484A>C
ENST00000647328.1:n.1207A>C
ENST00000647551.1:n.4935A>C
ENST00000368838.1:c.1207A>C	ENSP00000357831.1:p.Lys403Gln
ENST00000368841.6:c.*1157A>C	ENSP00000357834.2:n.*1157A>C
ENST00000368843.7:c.1486A>C	ENSP00000357836.3:p.Lys496Gln
ENST00000458013.6:c.1486A>C	ENSP00000400333.2:p.Lys496Gln
NM_030918.5:c.1486A>C	NP_112180.4:p.Lys496Gln
XM_005245509.1:c.1486A>C	XP_005245566.1:p.Lys496Gln
XM_005245510.2:c.1177A>C	XP_005245567.1:p.Lys393Gln
XM_005245511.3:c.928A>C	XP_005245568.1:p.Lys310Gln
XM_011510024.1:c.1183A>C	XP_011508326.1:p.Lys395Gln
XM_011510025.1:c.1123A>C	XP_011508327.1:p.Lys375Gln
NM_001330723.1:c.1486A>C	NP_001317652.1:p.Lys496Gln
XM_005245510.3:c.1177A>C	XP_005245567.1:p.Lys393Gln
XM_005245511.4:c.928A>C	XP_005245568.1:p.Lys310Gln
XM_011510024.2:c.1183A>C	XP_011508326.1:p.Lys395Gln
XM_011510025.2:c.1123A>C	XP_011508327.1:p.Lys375Gln
XM_017002417.1:c.1123A>C	XP_016857906.1:p.Lys375Gln
XM_024450038.1:c.928A>C	XP_024305806.1:p.Lys310Gln
XM_024450039.1:c.928A>C	XP_024305807.1:p.Lys310Gln
NM_001330723.2:c.1486A>C MANE Select	NP_001317652.1:p.Lys496Gln
NM_030918.6:c.1486A>C	NP_112180.4:p.Lys496Gln