Canonical Allele Identifier: CA341972213

Gene: SNX27

Linked Data

• MyVariant Identifiers: chr1:g.151664998A>C (hg19) ; chr1:g.151692522A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151692522A>C , CM000663.2:g.151692522A>C	GRCh38
NC_000001.10:g.151664998A>C , CM000663.1:g.151664998A>C	GRCh37
NC_000001.9:g.149931622A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000368838.2:c.924A>C
ENST00000368841.7:c.*998A>C	ENSP00000357834.2:n.*998A>C
ENST00000368843.8:c.1327A>C	ENSP00000357836.3:p.Ile443Leu
ENST00000458013.7:c.1327A>C MANE Select	ENSP00000400333.2:p.Ile443Leu
ENST00000642349.1:c.1061A>C	ENSP00000494331.1:n.1061A>C
ENST00000642376.1:c.964A>C	ENSP00000496645.1:p.Ile322Leu
ENST00000642479.1:c.*705A>C	ENSP00000496775.1:n.*705A>C
ENST00000643179.1:n.1135A>C
ENST00000643937.1:n.1005A>C
ENST00000644970.1:n.1325A>C
ENST00000647328.1:n.1048A>C
ENST00000647551.1:n.4776A>C
ENST00000368838.1:c.1048A>C	ENSP00000357831.1:p.Ile350Leu
ENST00000368841.6:c.*998A>C	ENSP00000357834.2:n.*998A>C
ENST00000368843.7:c.1327A>C	ENSP00000357836.3:p.Ile443Leu
ENST00000458013.6:c.1327A>C	ENSP00000400333.2:p.Ile443Leu
NM_030918.5:c.1327A>C	NP_112180.4:p.Ile443Leu
XM_005245509.1:c.1327A>C	XP_005245566.1:p.Ile443Leu
XM_005245510.2:c.1018A>C	XP_005245567.1:p.Ile340Leu
XM_005245511.3:c.769A>C	XP_005245568.1:p.Ile257Leu
XM_011510024.1:c.1024A>C	XP_011508326.1:p.Ile342Leu
XM_011510025.1:c.964A>C	XP_011508327.1:p.Ile322Leu
NM_001330723.1:c.1327A>C	NP_001317652.1:p.Ile443Leu
XM_005245510.3:c.1018A>C	XP_005245567.1:p.Ile340Leu
XM_005245511.4:c.769A>C	XP_005245568.1:p.Ile257Leu
XM_011510024.2:c.1024A>C	XP_011508326.1:p.Ile342Leu
XM_011510025.2:c.964A>C	XP_011508327.1:p.Ile322Leu
XM_017002417.1:c.964A>C	XP_016857906.1:p.Ile322Leu
XM_024450038.1:c.769A>C	XP_024305806.1:p.Ile257Leu
XM_024450039.1:c.769A>C	XP_024305807.1:p.Ile257Leu
NM_001330723.2:c.1327A>C MANE Select	NP_001317652.1:p.Ile443Leu
NM_030918.6:c.1327A>C	NP_112180.4:p.Ile443Leu