Canonical Allele Identifier: CA341972218

Gene: SNX27

Linked Data

• gnomAD v4: 1-151692523-T-C
• MyVariant Identifiers: chr1:g.151664999T>C (hg19) ; chr1:g.151692523T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.151692523T>C , CM000663.2:g.151692523T>C	GRCh38
NC_000001.10:g.151664999T>C , CM000663.1:g.151664999T>C	GRCh37
NC_000001.9:g.149931623T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000368838.2:c.925T>C
ENST00000368841.7:c.*999T>C	ENSP00000357834.2:n.*999T>C
ENST00000368843.8:c.1328T>C	ENSP00000357836.3:p.Ile443Thr
ENST00000458013.7:c.1328T>C MANE Select	ENSP00000400333.2:p.Ile443Thr
ENST00000642349.1:c.1062T>C	ENSP00000494331.1:n.1062T>C
ENST00000642376.1:c.965T>C	ENSP00000496645.1:p.Ile322Thr
ENST00000642479.1:c.*706T>C	ENSP00000496775.1:n.*706T>C
ENST00000643179.1:n.1136T>C
ENST00000643937.1:n.1006T>C
ENST00000644970.1:n.1326T>C
ENST00000647328.1:n.1049T>C
ENST00000647551.1:n.4777T>C
ENST00000368838.1:c.1049T>C	ENSP00000357831.1:p.Ile350Thr
ENST00000368841.6:c.*999T>C	ENSP00000357834.2:n.*999T>C
ENST00000368843.7:c.1328T>C	ENSP00000357836.3:p.Ile443Thr
ENST00000458013.6:c.1328T>C	ENSP00000400333.2:p.Ile443Thr
NM_030918.5:c.1328T>C	NP_112180.4:p.Ile443Thr
XM_005245509.1:c.1328T>C	XP_005245566.1:p.Ile443Thr
XM_005245510.2:c.1019T>C	XP_005245567.1:p.Ile340Thr
XM_005245511.3:c.770T>C	XP_005245568.1:p.Ile257Thr
XM_011510024.1:c.1025T>C	XP_011508326.1:p.Ile342Thr
XM_011510025.1:c.965T>C	XP_011508327.1:p.Ile322Thr
NM_001330723.1:c.1328T>C	NP_001317652.1:p.Ile443Thr
XM_005245510.3:c.1019T>C	XP_005245567.1:p.Ile340Thr
XM_005245511.4:c.770T>C	XP_005245568.1:p.Ile257Thr
XM_011510024.2:c.1025T>C	XP_011508326.1:p.Ile342Thr
XM_011510025.2:c.965T>C	XP_011508327.1:p.Ile322Thr
XM_017002417.1:c.965T>C	XP_016857906.1:p.Ile322Thr
XM_024450038.1:c.770T>C	XP_024305806.1:p.Ile257Thr
XM_024450039.1:c.770T>C	XP_024305807.1:p.Ile257Thr
NM_001330723.2:c.1328T>C MANE Select	NP_001317652.1:p.Ile443Thr
NM_030918.6:c.1328T>C	NP_112180.4:p.Ile443Thr