Canonical Allele Identifier: CA402328901

Gene: SLC14A1

Linked Data

• MyVariant Identifiers: chr18:g.43319543T>A (hg19) ; chr18:g.45739578T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739578T>A , CM000680.2:g.45739578T>A	GRCh38
NC_000018.9:g.43319543T>A , CM000680.1:g.43319543T>A	GRCh37
NC_000018.8:g.41573541T>A	NCBI36
NG_011775.3:g.20452T>A
NG_011775.4:g.57554T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.862T>A MANE Select	ENSP00000318546.4:p.Phe288Ile
ENST00000502059.7:c.*215T>A	ENSP00000442180.2:n.*215T>A
ENST00000586951.6:c.862T>A	ENSP00000465702.2:p.Phe288Ile
ENST00000588179.6:c.*192T>A	ENSP00000467898.2:n.*192T>A
ENST00000589322.7:c.466T>A	ENSP00000466273.3:p.Phe156Ile
ENST00000321925.8:c.862T>A	ENSP00000318546.4:p.Phe288Ile
ENST00000402943.6:c.547T>A	ENSP00000385320.2:p.Phe183Ile
ENST00000415427.7:c.1030T>A	ENSP00000412309.2:p.Phe344Ile
ENST00000436407.7:c.1030T>A	ENSP00000390637.2:p.Phe344Ile
ENST00000502059.6:c.538T>A	ENSP00000442180.1:p.Phe180Ile
ENST00000535474.5:c.466T>A	ENSP00000441998.1:p.Phe156Ile
ENST00000586142.5:c.862T>A	ENSP00000470476.1:p.Phe288Ile
ENST00000586854.1:n.295T>A
ENST00000588179.5:c.*192T>A	ENSP00000467898.2:n.*192T>A
ENST00000589322.6:c.466T>A	ENSP00000466273.2:p.Phe156Ile
ENST00000589700.5:c.714T>A	ENSP00000465044.1:p.Val238=
ENST00000590377.1:c.386+2930T>A
ENST00000591541.2:n.77T>A
ENST00000619403.4:c.714T>A	ENSP00000479595.1:p.Val238=
NM_001128588.3:c.1030T>A	NP_001122060.3:p.Phe344Ile
NM_001146036.2:c.862T>A	NP_001139508.2:p.Phe288Ile
NM_001146037.1:c.1030T>A	NP_001139509.1:p.Phe344Ile
NM_001308278.1:c.547T>A	NP_001295207.1:p.Phe183Ile
NM_001308279.1:c.466T>A	NP_001295208.1:p.Phe156Ile
NM_015865.6:c.862T>A	NP_056949.4:p.Phe288Ile
XM_005258329.1:c.1030T>A	XP_005258386.1:p.Phe344Ile
XM_005258333.1:c.466T>A	XP_005258390.1:p.Phe156Ile
XM_006722526.2:c.967T>A	XP_006722589.1:p.Phe323Ile
XM_011526141.1:c.967T>A	XP_011524443.1:p.Phe323Ile
XM_011526142.1:c.967T>A	XP_011524444.1:p.Phe323Ile
XM_011526143.1:c.1030T>A	XP_011524445.1:p.Phe344Ile
XM_011526144.1:c.1030T>A	XP_011524446.1:p.Phe344Ile
XR_935425.1:n.680-1984A>T
NM_015865.7:c.862T>A MANE Select	NP_056949.4:p.Phe288Ile
XM_006722526.3:c.967T>A	XP_006722589.1:p.Phe323Ile
XM_024451238.1:c.862T>A	XP_024307006.1:p.Phe288Ile
XR_001753266.1:n.1228T>A
XR_001753561.1:n.529-1984A>T
XR_935423.2:n.698-1984A>T
NM_001128588.4:c.1030T>A	NP_001122060.3:p.Phe344Ile
NM_001146036.3:c.862T>A	NP_001139508.2:p.Phe288Ile
NM_001308278.2:c.547T>A	NP_001295207.1:p.Phe183Ile
NM_001308279.2:c.466T>A	NP_001295208.1:p.Phe156Ile