Canonical Allele Identifier: CA402328876

Gene: SLC14A1

Linked Data

• dbSNP Id: rs1185378364
• MyVariant Identifiers: chr18:g.43319534C>T (hg19) ; chr18:g.45739569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739569C>T , CM000680.2:g.45739569C>T	GRCh38
NC_000018.9:g.43319534C>T , CM000680.1:g.43319534C>T	GRCh37
NC_000018.8:g.41573532C>T	NCBI36
NG_011775.3:g.20443C>T
NG_011775.4:g.57545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.853C>T MANE Select	ENSP00000318546.4:p.Leu285Phe
ENST00000502059.7:c.*206C>T	ENSP00000442180.2:n.*206C>T
ENST00000586951.6:c.853C>T	ENSP00000465702.2:p.Leu285Phe
ENST00000588179.6:c.*183C>T	ENSP00000467898.2:n.*183C>T
ENST00000589322.7:c.457C>T	ENSP00000466273.3:p.Leu153Phe
ENST00000321925.8:c.853C>T	ENSP00000318546.4:p.Leu285Phe
ENST00000402943.6:c.538C>T	ENSP00000385320.2:p.Leu180Phe
ENST00000415427.7:c.1021C>T	ENSP00000412309.2:p.Leu341Phe
ENST00000436407.7:c.1021C>T	ENSP00000390637.2:p.Leu341Phe
ENST00000502059.6:c.529C>T	ENSP00000442180.1:p.Leu177Phe
ENST00000535474.5:c.457C>T	ENSP00000441998.1:p.Leu153Phe
ENST00000586142.5:c.853C>T	ENSP00000470476.1:p.Leu285Phe
ENST00000586854.1:n.286C>T
ENST00000588179.5:c.*183C>T	ENSP00000467898.2:n.*183C>T
ENST00000589322.6:c.457C>T	ENSP00000466273.2:p.Leu153Phe
ENST00000589700.5:c.705C>T	ENSP00000465044.1:p.Asp235=
ENST00000590377.1:c.386+2921C>T
ENST00000591541.2:n.68C>T
ENST00000619403.4:c.705C>T	ENSP00000479595.1:p.Asp235=
NM_001128588.3:c.1021C>T	NP_001122060.3:p.Leu341Phe
NM_001146036.2:c.853C>T	NP_001139508.2:p.Leu285Phe
NM_001146037.1:c.1021C>T	NP_001139509.1:p.Leu341Phe
NM_001308278.1:c.538C>T	NP_001295207.1:p.Leu180Phe
NM_001308279.1:c.457C>T	NP_001295208.1:p.Leu153Phe
NM_015865.6:c.853C>T	NP_056949.4:p.Leu285Phe
XM_005258329.1:c.1021C>T	XP_005258386.1:p.Leu341Phe
XM_005258333.1:c.457C>T	XP_005258390.1:p.Leu153Phe
XM_006722526.2:c.958C>T	XP_006722589.1:p.Leu320Phe
XM_011526141.1:c.958C>T	XP_011524443.1:p.Leu320Phe
XM_011526142.1:c.958C>T	XP_011524444.1:p.Leu320Phe
XM_011526143.1:c.1021C>T	XP_011524445.1:p.Leu341Phe
XM_011526144.1:c.1021C>T	XP_011524446.1:p.Leu341Phe
XR_935425.1:n.680-1975G>A
NM_015865.7:c.853C>T MANE Select	NP_056949.4:p.Leu285Phe
XM_006722526.3:c.958C>T	XP_006722589.1:p.Leu320Phe
XM_024451238.1:c.853C>T	XP_024307006.1:p.Leu285Phe
XR_001753266.1:n.1219C>T
XR_001753561.1:n.529-1975G>A
XR_935423.2:n.698-1975G>A
NM_001128588.4:c.1021C>T	NP_001122060.3:p.Leu341Phe
NM_001146036.3:c.853C>T	NP_001139508.2:p.Leu285Phe
NM_001308278.2:c.538C>T	NP_001295207.1:p.Leu180Phe
NM_001308279.2:c.457C>T	NP_001295208.1:p.Leu153Phe