Canonical Allele Identifier: CA2300515664
Gene: SLC14A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.45739564T= , CM000680.2:g.45739564T= GRCh38
NC_000018.9:g.43319529T= , CM000680.1:g.43319529T= GRCh37
NC_000018.8:g.41573527T= NCBI36
NG_011775.3:g.20438T=
NG_011775.4:g.57540T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000321925.9:c.848T= MANE Select ENSP00000318546.4:p.Phe283=
ENST00000502059.7:c.*201T= ENSP00000442180.2:n.*201T=
ENST00000586951.6:c.848T= ENSP00000465702.2:p.Phe283=
ENST00000588179.6:c.*178T= ENSP00000467898.2:n.*178T=
ENST00000589322.7:c.452T= ENSP00000466273.3:p.Phe151=
ENST00000321925.8:c.848T= ENSP00000318546.4:p.Phe283=
ENST00000402943.6:c.533T= ENSP00000385320.2:p.Phe178=
ENST00000415427.7:c.1016T= ENSP00000412309.2:p.Phe339=
ENST00000436407.7:c.1016T= ENSP00000390637.2:p.Phe339=
ENST00000502059.6:c.524T= ENSP00000442180.1:p.Phe175=
ENST00000535474.5:c.452T= ENSP00000441998.1:p.Phe151=
ENST00000586142.5:c.848T= ENSP00000470476.1:p.Phe283=
ENST00000586854.1:n.281T=
ENST00000588179.5:c.*178T= ENSP00000467898.2:n.*178T=
ENST00000589322.6:c.452T= ENSP00000466273.2:p.Phe151=
ENST00000589700.5:c.700T= ENSP00000465044.1:p.Leu234=
ENST00000590377.1:c.386+2916T=
ENST00000591541.2:n.63T=
ENST00000619403.4:c.700T= ENSP00000479595.1:p.Leu234=
NM_001128588.3:c.1016T= NP_001122060.3:p.Phe339=
NM_001146036.2:c.848T= NP_001139508.2:p.Phe283=
NM_001146037.1:c.1016T= NP_001139509.1:p.Phe339=
NM_001308278.1:c.533T= NP_001295207.1:p.Phe178=
NM_001308279.1:c.452T= NP_001295208.1:p.Phe151=
NM_015865.6:c.848T= NP_056949.4:p.Phe283=
XM_005258329.1:c.1016T= XP_005258386.1:p.Phe339=
XM_005258333.1:c.452T= XP_005258390.1:p.Phe151=
XM_006722526.2:c.953T= XP_006722589.1:p.Phe318=
XM_011526141.1:c.953T= XP_011524443.1:p.Phe318=
XM_011526142.1:c.953T= XP_011524444.1:p.Phe318=
XM_011526143.1:c.1016T= XP_011524445.1:p.Phe339=
XM_011526144.1:c.1016T= XP_011524446.1:p.Phe339=
XR_935425.1:n.680-1970A=
NM_015865.7:c.848T= MANE Select NP_056949.4:p.Phe283=
XM_006722526.3:c.953T= XP_006722589.1:p.Phe318=
XM_024451238.1:c.848T= XP_024307006.1:p.Phe283=
XR_001753266.1:n.1214T=
XR_001753561.1:n.529-1970A=
XR_935423.2:n.698-1970A=
NM_001128588.4:c.1016T= NP_001122060.3:p.Phe339=
NM_001146036.3:c.848T= NP_001139508.2:p.Phe283=
NM_001308278.2:c.533T= NP_001295207.1:p.Phe178=
NM_001308279.2:c.452T= NP_001295208.1:p.Phe151=