Canonical Allele Identifier: CA402328991

Gene: SLC14A1

Linked Data

• MyVariant Identifiers: chr18:g.43319574G>T (hg19) ; chr18:g.45739609G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739609G>T , CM000680.2:g.45739609G>T	GRCh38
NC_000018.9:g.43319574G>T , CM000680.1:g.43319574G>T	GRCh37
NC_000018.8:g.41573572G>T	NCBI36
NG_011775.3:g.20483G>T
NG_011775.4:g.57585G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.893G>T MANE Select	ENSP00000318546.4:p.Gly298Val
ENST00000502059.7:c.*246G>T	ENSP00000442180.2:n.*246G>T
ENST00000586951.6:c.893G>T	ENSP00000465702.2:p.Gly298Val
ENST00000588179.6:c.*223G>T	ENSP00000467898.2:n.*223G>T
ENST00000589322.7:c.497G>T	ENSP00000466273.3:p.Gly166Val
ENST00000321925.8:c.893G>T	ENSP00000318546.4:p.Gly298Val
ENST00000402943.6:c.578G>T	ENSP00000385320.2:p.Gly193Val
ENST00000415427.7:c.1061G>T	ENSP00000412309.2:p.Gly354Val
ENST00000436407.7:c.1061G>T	ENSP00000390637.2:p.Gly354Val
ENST00000502059.6:c.569G>T	ENSP00000442180.1:p.Gly190Val
ENST00000535474.5:c.497G>T	ENSP00000441998.1:p.Gly166Val
ENST00000586142.5:c.893G>T	ENSP00000470476.1:p.Gly298Val
ENST00000586854.1:n.326G>T
ENST00000588179.5:c.*223G>T	ENSP00000467898.2:n.*223G>T
ENST00000589322.6:c.497G>T	ENSP00000466273.2:p.Gly166Val
ENST00000589700.5:c.745G>T	ENSP00000465044.1:p.Glu249Ter
ENST00000590377.1:c.386+2961G>T
ENST00000591541.2:n.108G>T
ENST00000619403.4:c.745G>T	ENSP00000479595.1:p.Glu249Ter
NM_001128588.3:c.1061G>T	NP_001122060.3:p.Gly354Val
NM_001146036.2:c.893G>T	NP_001139508.2:p.Gly298Val
NM_001146037.1:c.1061G>T	NP_001139509.1:p.Gly354Val
NM_001308278.1:c.578G>T	NP_001295207.1:p.Gly193Val
NM_001308279.1:c.497G>T	NP_001295208.1:p.Gly166Val
NM_015865.6:c.893G>T	NP_056949.4:p.Gly298Val
XM_005258329.1:c.1061G>T	XP_005258386.1:p.Gly354Val
XM_005258333.1:c.497G>T	XP_005258390.1:p.Gly166Val
XM_006722526.2:c.998G>T	XP_006722589.1:p.Gly333Val
XM_011526141.1:c.998G>T	XP_011524443.1:p.Gly333Val
XM_011526142.1:c.998G>T	XP_011524444.1:p.Gly333Val
XM_011526143.1:c.1061G>T	XP_011524445.1:p.Gly354Val
XM_011526144.1:c.1061G>T	XP_011524446.1:p.Gly354Val
XR_935425.1:n.680-2015C>A
NM_015865.7:c.893G>T MANE Select	NP_056949.4:p.Gly298Val
XM_006722526.3:c.998G>T	XP_006722589.1:p.Gly333Val
XM_024451238.1:c.893G>T	XP_024307006.1:p.Gly298Val
XR_001753266.1:n.1259G>T
XR_001753561.1:n.529-2015C>A
XR_935423.2:n.698-2015C>A
NM_001128588.4:c.1061G>T	NP_001122060.3:p.Gly354Val
NM_001146036.3:c.893G>T	NP_001139508.2:p.Gly298Val
NM_001308278.2:c.578G>T	NP_001295207.1:p.Gly193Val
NM_001308279.2:c.497G>T	NP_001295208.1:p.Gly166Val