Canonical Allele Identifier: CA402328884

Gene: SLC14A1

Linked Data

• MyVariant Identifiers: chr18:g.43319537T>C (hg19) ; chr18:g.45739572T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739572T>C , CM000680.2:g.45739572T>C	GRCh38
NC_000018.9:g.43319537T>C , CM000680.1:g.43319537T>C	GRCh37
NC_000018.8:g.41573535T>C	NCBI36
NG_011775.3:g.20446T>C
NG_011775.4:g.57548T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.856T>C MANE Select	ENSP00000318546.4:p.Trp286Arg
ENST00000502059.7:c.*209T>C	ENSP00000442180.2:n.*209T>C
ENST00000586951.6:c.856T>C	ENSP00000465702.2:p.Trp286Arg
ENST00000588179.6:c.*186T>C	ENSP00000467898.2:n.*186T>C
ENST00000589322.7:c.460T>C	ENSP00000466273.3:p.Trp154Arg
ENST00000321925.8:c.856T>C	ENSP00000318546.4:p.Trp286Arg
ENST00000402943.6:c.541T>C	ENSP00000385320.2:p.Trp181Arg
ENST00000415427.7:c.1024T>C	ENSP00000412309.2:p.Trp342Arg
ENST00000436407.7:c.1024T>C	ENSP00000390637.2:p.Trp342Arg
ENST00000502059.6:c.532T>C	ENSP00000442180.1:p.Trp178Arg
ENST00000535474.5:c.460T>C	ENSP00000441998.1:p.Trp154Arg
ENST00000586142.5:c.856T>C	ENSP00000470476.1:p.Trp286Arg
ENST00000586854.1:n.289T>C
ENST00000588179.5:c.*186T>C	ENSP00000467898.2:n.*186T>C
ENST00000589322.6:c.460T>C	ENSP00000466273.2:p.Trp154Arg
ENST00000589700.5:c.708T>C	ENSP00000465044.1:p.Ser236=
ENST00000590377.1:c.386+2924T>C
ENST00000591541.2:n.71T>C
ENST00000619403.4:c.708T>C	ENSP00000479595.1:p.Ser236=
NM_001128588.3:c.1024T>C	NP_001122060.3:p.Trp342Arg
NM_001146036.2:c.856T>C	NP_001139508.2:p.Trp286Arg
NM_001146037.1:c.1024T>C	NP_001139509.1:p.Trp342Arg
NM_001308278.1:c.541T>C	NP_001295207.1:p.Trp181Arg
NM_001308279.1:c.460T>C	NP_001295208.1:p.Trp154Arg
NM_015865.6:c.856T>C	NP_056949.4:p.Trp286Arg
XM_005258329.1:c.1024T>C	XP_005258386.1:p.Trp342Arg
XM_005258333.1:c.460T>C	XP_005258390.1:p.Trp154Arg
XM_006722526.2:c.961T>C	XP_006722589.1:p.Trp321Arg
XM_011526141.1:c.961T>C	XP_011524443.1:p.Trp321Arg
XM_011526142.1:c.961T>C	XP_011524444.1:p.Trp321Arg
XM_011526143.1:c.1024T>C	XP_011524445.1:p.Trp342Arg
XM_011526144.1:c.1024T>C	XP_011524446.1:p.Trp342Arg
XR_935425.1:n.680-1978A>G
NM_015865.7:c.856T>C MANE Select	NP_056949.4:p.Trp286Arg
XM_006722526.3:c.961T>C	XP_006722589.1:p.Trp321Arg
XM_024451238.1:c.856T>C	XP_024307006.1:p.Trp286Arg
XR_001753266.1:n.1222T>C
XR_001753561.1:n.529-1978A>G
XR_935423.2:n.698-1978A>G
NM_001128588.4:c.1024T>C	NP_001122060.3:p.Trp342Arg
NM_001146036.3:c.856T>C	NP_001139508.2:p.Trp286Arg
NM_001308278.2:c.541T>C	NP_001295207.1:p.Trp181Arg
NM_001308279.2:c.460T>C	NP_001295208.1:p.Trp154Arg