Canonical Allele Identifier: CA1093643

Gene: SNX27

Linked Data

• ClinVar Variation Id: 462809
• ClinVar RCV Id: RCV000534803 ; RCV003962497
• dbSNP Id: rs193058770
• ExAC: 1:151665000 C / T
• gnomAD v2: 1-151665000-C-T
• gnomAD v3: 1-151692524-C-T
• gnomAD v4: 1-151692524-C-T
• MyVariant Identifiers: chr1:g.151665000C>T (hg19) ; chr1:g.151692524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151692524C>T , CM000663.2:g.151692524C>T	GRCh38
NC_000001.10:g.151665000C>T , CM000663.1:g.151665000C>T	GRCh37
NC_000001.9:g.149931624C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000368838.2:c.926C>T
ENST00000368841.7:c.*1000C>T	ENSP00000357834.2:n.*1000C>T
ENST00000368843.8:c.1329C>T	ENSP00000357836.3:p.Ile443=
ENST00000458013.7:c.1329C>T MANE Select	ENSP00000400333.2:p.Ile443=
ENST00000642349.1:c.1063C>T	ENSP00000494331.1:n.1063C>T
ENST00000642376.1:c.966C>T	ENSP00000496645.1:p.Ile322=
ENST00000642479.1:c.*707C>T	ENSP00000496775.1:n.*707C>T
ENST00000643179.1:n.1137C>T
ENST00000643937.1:n.1007C>T
ENST00000644970.1:n.1327C>T
ENST00000647328.1:n.1050C>T
ENST00000647551.1:n.4778C>T
ENST00000368838.1:c.1050C>T	ENSP00000357831.1:p.Ile350=
ENST00000368841.6:c.*1000C>T	ENSP00000357834.2:n.*1000C>T
ENST00000368843.7:c.1329C>T	ENSP00000357836.3:p.Ile443=
ENST00000458013.6:c.1329C>T	ENSP00000400333.2:p.Ile443=
NM_030918.5:c.1329C>T	NP_112180.4:p.Ile443=
XM_005245509.1:c.1329C>T	XP_005245566.1:p.Ile443=
XM_005245510.2:c.1020C>T	XP_005245567.1:p.Ile340=
XM_005245511.3:c.771C>T	XP_005245568.1:p.Ile257=
XM_011510024.1:c.1026C>T	XP_011508326.1:p.Ile342=
XM_011510025.1:c.966C>T	XP_011508327.1:p.Ile322=
NM_001330723.1:c.1329C>T	NP_001317652.1:p.Ile443=
XM_005245510.3:c.1020C>T	XP_005245567.1:p.Ile340=
XM_005245511.4:c.771C>T	XP_005245568.1:p.Ile257=
XM_011510024.2:c.1026C>T	XP_011508326.1:p.Ile342=
XM_011510025.2:c.966C>T	XP_011508327.1:p.Ile322=
XM_017002417.1:c.966C>T	XP_016857906.1:p.Ile322=
XM_024450038.1:c.771C>T	XP_024305806.1:p.Ile257=
XM_024450039.1:c.771C>T	XP_024305807.1:p.Ile257=
NM_001330723.2:c.1329C>T MANE Select	NP_001317652.1:p.Ile443=
NM_030918.6:c.1329C>T	NP_112180.4:p.Ile443=