Canonical Allele Identifier: CA341972274

Gene: SNX27

Linked Data

• gnomAD v4: 1-151692533-C-G
• MyVariant Identifiers: chr1:g.151665009C>G (hg19) ; chr1:g.151692533C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151692533C>G , CM000663.2:g.151692533C>G	GRCh38
NC_000001.10:g.151665009C>G , CM000663.1:g.151665009C>G	GRCh37
NC_000001.9:g.149931633C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000368838.2:c.935C>G
ENST00000368841.7:c.*1009C>G	ENSP00000357834.2:n.*1009C>G
ENST00000368843.8:c.1338C>G	ENSP00000357836.3:p.Ile446Met
ENST00000458013.7:c.1338C>G MANE Select	ENSP00000400333.2:p.Ile446Met
ENST00000642349.1:c.1072C>G	ENSP00000494331.1:n.1072C>G
ENST00000642376.1:c.975C>G	ENSP00000496645.1:p.Ile325Met
ENST00000642479.1:c.*716C>G	ENSP00000496775.1:n.*716C>G
ENST00000643179.1:n.1146C>G
ENST00000643937.1:n.1016C>G
ENST00000644970.1:n.1336C>G
ENST00000647328.1:n.1059C>G
ENST00000647551.1:n.4787C>G
ENST00000368838.1:c.1059C>G	ENSP00000357831.1:p.Ile353Met
ENST00000368841.6:c.*1009C>G	ENSP00000357834.2:n.*1009C>G
ENST00000368843.7:c.1338C>G	ENSP00000357836.3:p.Ile446Met
ENST00000458013.6:c.1338C>G	ENSP00000400333.2:p.Ile446Met
NM_030918.5:c.1338C>G	NP_112180.4:p.Ile446Met
XM_005245509.1:c.1338C>G	XP_005245566.1:p.Ile446Met
XM_005245510.2:c.1029C>G	XP_005245567.1:p.Ile343Met
XM_005245511.3:c.780C>G	XP_005245568.1:p.Ile260Met
XM_011510024.1:c.1035C>G	XP_011508326.1:p.Ile345Met
XM_011510025.1:c.975C>G	XP_011508327.1:p.Ile325Met
NM_001330723.1:c.1338C>G	NP_001317652.1:p.Ile446Met
XM_005245510.3:c.1029C>G	XP_005245567.1:p.Ile343Met
XM_005245511.4:c.780C>G	XP_005245568.1:p.Ile260Met
XM_011510024.2:c.1035C>G	XP_011508326.1:p.Ile345Met
XM_011510025.2:c.975C>G	XP_011508327.1:p.Ile325Met
XM_017002417.1:c.975C>G	XP_016857906.1:p.Ile325Met
XM_024450038.1:c.780C>G	XP_024305806.1:p.Ile260Met
XM_024450039.1:c.780C>G	XP_024305807.1:p.Ile260Met
NM_001330723.2:c.1338C>G MANE Select	NP_001317652.1:p.Ile446Met
NM_030918.6:c.1338C>G	NP_112180.4:p.Ile446Met