Canonical Allele Identifier: CA30493704

Gene: SNX27

Linked Data

• ClinVar Variation Id: 1546626
• ClinVar RCV Id: RCV002173043
• dbSNP Id: rs1002510480
• gnomAD v2: 1-151584875-A-G
• gnomAD v3: 1-151612399-A-G
• gnomAD v4: 1-151612399-A-G
• MyVariant Identifiers: chr1:g.151584875A>G (hg19) ; chr1:g.151612399A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151612399A>G , CM000663.2:g.151612399A>G	GRCh38
NC_000001.10:g.151584875A>G , CM000663.1:g.151584875A>G	GRCh37
NC_000001.9:g.149851499A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368841.7:c.180+18A>G	ENSP00000357834.2:n.180+18A>G
ENST00000368843.8:c.198A>G	ENSP00000357836.3:p.Gln66=
ENST00000458013.7:c.198A>G MANE Select	ENSP00000400333.2:p.Gln66=
ENST00000642349.1:c.45+18A>G	ENSP00000494331.1:n.45+18A>G
ENST00000642376.1:c.180+18A>G	ENSP00000496645.1:n.180+18A>G
ENST00000642479.1:c.198A>G	ENSP00000496775.1:p.Gln66=
ENST00000643179.1:n.6A>G
ENST00000368841.6:c.180+18A>G	ENSP00000357834.2:n.180+18A>G
ENST00000368843.7:c.198A>G	ENSP00000357836.3:p.Gln66=
ENST00000458013.6:c.198A>G	ENSP00000400333.2:p.Gln66=
NM_030918.5:c.198A>G	NP_112180.4:p.Gln66=
XM_005245509.1:c.198A>G	XP_005245566.1:p.Gln66=
XM_005245510.2:c.-41A>G	XP_005245567.1:n.-41A>G
XM_005245511.3:c.-248+18A>G	XP_005245568.1:n.-248+18A>G
XM_011510024.1:c.198A>G	XP_011508326.1:p.Gln66=
XM_011510025.1:c.180+18A>G	XP_011508327.1:n.180+18A>G
XM_011510026.1:c.198A>G	XP_011508328.1:p.Gln66=
NM_001330723.1:c.198A>G	NP_001317652.1:p.Gln66=
XM_005245510.3:c.-41A>G	XP_005245567.1:n.-41A>G
XM_005245511.4:c.-248+18A>G	XP_005245568.1:n.-248+18A>G
XM_011510024.2:c.198A>G	XP_011508326.1:p.Gln66=
XM_011510025.2:c.180+18A>G	XP_011508327.1:n.180+18A>G
XM_011510026.2:c.198A>G	XP_011508328.1:p.Gln66=
XM_017002417.1:c.180+18A>G	XP_016857906.1:n.180+18A>G
XM_024450038.1:c.-129A>G	XP_024305806.1:n.-129A>G
XM_024450039.1:c.-129A>G	XP_024305807.1:n.-129A>G
NM_001330723.2:c.198A>G MANE Select	NP_001317652.1:p.Gln66=
NM_030918.6:c.198A>G	NP_112180.4:p.Gln66=