Canonical Allele Identifier: CA402328939

Gene: SLC14A1

Linked Data

• MyVariant Identifiers: chr18:g.43319556T>C (hg19) ; chr18:g.45739591T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739591T>C , CM000680.2:g.45739591T>C	GRCh38
NC_000018.9:g.43319556T>C , CM000680.1:g.43319556T>C	GRCh37
NC_000018.8:g.41573554T>C	NCBI36
NG_011775.3:g.20465T>C
NG_011775.4:g.57567T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.875T>C MANE Select	ENSP00000318546.4:p.Leu292Pro
ENST00000502059.7:c.*228T>C	ENSP00000442180.2:n.*228T>C
ENST00000586951.6:c.875T>C	ENSP00000465702.2:p.Leu292Pro
ENST00000588179.6:c.*205T>C	ENSP00000467898.2:n.*205T>C
ENST00000589322.7:c.479T>C	ENSP00000466273.3:p.Leu160Pro
ENST00000321925.8:c.875T>C	ENSP00000318546.4:p.Leu292Pro
ENST00000402943.6:c.560T>C	ENSP00000385320.2:p.Leu187Pro
ENST00000415427.7:c.1043T>C	ENSP00000412309.2:p.Leu348Pro
ENST00000436407.7:c.1043T>C	ENSP00000390637.2:p.Leu348Pro
ENST00000502059.6:c.551T>C	ENSP00000442180.1:p.Leu184Pro
ENST00000535474.5:c.479T>C	ENSP00000441998.1:p.Leu160Pro
ENST00000586142.5:c.875T>C	ENSP00000470476.1:p.Leu292Pro
ENST00000586854.1:n.308T>C
ENST00000588179.5:c.*205T>C	ENSP00000467898.2:n.*205T>C
ENST00000589322.6:c.479T>C	ENSP00000466273.2:p.Leu160Pro
ENST00000589700.5:c.727T>C	ENSP00000465044.1:p.Trp243Arg
ENST00000590377.1:c.386+2943T>C
ENST00000591541.2:n.90T>C
ENST00000619403.4:c.727T>C	ENSP00000479595.1:p.Trp243Arg
NM_001128588.3:c.1043T>C	NP_001122060.3:p.Leu348Pro
NM_001146036.2:c.875T>C	NP_001139508.2:p.Leu292Pro
NM_001146037.1:c.1043T>C	NP_001139509.1:p.Leu348Pro
NM_001308278.1:c.560T>C	NP_001295207.1:p.Leu187Pro
NM_001308279.1:c.479T>C	NP_001295208.1:p.Leu160Pro
NM_015865.6:c.875T>C	NP_056949.4:p.Leu292Pro
XM_005258329.1:c.1043T>C	XP_005258386.1:p.Leu348Pro
XM_005258333.1:c.479T>C	XP_005258390.1:p.Leu160Pro
XM_006722526.2:c.980T>C	XP_006722589.1:p.Leu327Pro
XM_011526141.1:c.980T>C	XP_011524443.1:p.Leu327Pro
XM_011526142.1:c.980T>C	XP_011524444.1:p.Leu327Pro
XM_011526143.1:c.1043T>C	XP_011524445.1:p.Leu348Pro
XM_011526144.1:c.1043T>C	XP_011524446.1:p.Leu348Pro
XR_935425.1:n.680-1997A>G
NM_015865.7:c.875T>C MANE Select	NP_056949.4:p.Leu292Pro
XM_006722526.3:c.980T>C	XP_006722589.1:p.Leu327Pro
XM_024451238.1:c.875T>C	XP_024307006.1:p.Leu292Pro
XR_001753266.1:n.1241T>C
XR_001753561.1:n.529-1997A>G
XR_935423.2:n.698-1997A>G
NM_001128588.4:c.1043T>C	NP_001122060.3:p.Leu348Pro
NM_001146036.3:c.875T>C	NP_001139508.2:p.Leu292Pro
NM_001308278.2:c.560T>C	NP_001295207.1:p.Leu187Pro
NM_001308279.2:c.479T>C	NP_001295208.1:p.Leu160Pro