Canonical Allele Identifier: CA402328963

Gene: SLC14A1

Linked Data

• MyVariant Identifiers: chr18:g.43319564A>T (hg19) ; chr18:g.45739599A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739599A>T , CM000680.2:g.45739599A>T	GRCh38
NC_000018.9:g.43319564A>T , CM000680.1:g.43319564A>T	GRCh37
NC_000018.8:g.41573562A>T	NCBI36
NG_011775.3:g.20473A>T
NG_011775.4:g.57575A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.883A>T MANE Select	ENSP00000318546.4:p.Ile295Phe
ENST00000502059.7:c.*236A>T	ENSP00000442180.2:n.*236A>T
ENST00000586951.6:c.883A>T	ENSP00000465702.2:p.Ile295Phe
ENST00000588179.6:c.*213A>T	ENSP00000467898.2:n.*213A>T
ENST00000589322.7:c.487A>T	ENSP00000466273.3:p.Ile163Phe
ENST00000321925.8:c.883A>T	ENSP00000318546.4:p.Ile295Phe
ENST00000402943.6:c.568A>T	ENSP00000385320.2:p.Ile190Phe
ENST00000415427.7:c.1051A>T	ENSP00000412309.2:p.Ile351Phe
ENST00000436407.7:c.1051A>T	ENSP00000390637.2:p.Ile351Phe
ENST00000502059.6:c.559A>T	ENSP00000442180.1:p.Ile187Phe
ENST00000535474.5:c.487A>T	ENSP00000441998.1:p.Ile163Phe
ENST00000586142.5:c.883A>T	ENSP00000470476.1:p.Ile295Phe
ENST00000586854.1:n.316A>T
ENST00000588179.5:c.*213A>T	ENSP00000467898.2:n.*213A>T
ENST00000589322.6:c.487A>T	ENSP00000466273.2:p.Ile163Phe
ENST00000589700.5:c.735A>T	ENSP00000465044.1:p.Ala245=
ENST00000590377.1:c.386+2951A>T
ENST00000591541.2:n.98A>T
ENST00000619403.4:c.735A>T	ENSP00000479595.1:p.Ala245=
NM_001128588.3:c.1051A>T	NP_001122060.3:p.Ile351Phe
NM_001146036.2:c.883A>T	NP_001139508.2:p.Ile295Phe
NM_001146037.1:c.1051A>T	NP_001139509.1:p.Ile351Phe
NM_001308278.1:c.568A>T	NP_001295207.1:p.Ile190Phe
NM_001308279.1:c.487A>T	NP_001295208.1:p.Ile163Phe
NM_015865.6:c.883A>T	NP_056949.4:p.Ile295Phe
XM_005258329.1:c.1051A>T	XP_005258386.1:p.Ile351Phe
XM_005258333.1:c.487A>T	XP_005258390.1:p.Ile163Phe
XM_006722526.2:c.988A>T	XP_006722589.1:p.Ile330Phe
XM_011526141.1:c.988A>T	XP_011524443.1:p.Ile330Phe
XM_011526142.1:c.988A>T	XP_011524444.1:p.Ile330Phe
XM_011526143.1:c.1051A>T	XP_011524445.1:p.Ile351Phe
XM_011526144.1:c.1051A>T	XP_011524446.1:p.Ile351Phe
XR_935425.1:n.680-2005T>A
NM_015865.7:c.883A>T MANE Select	NP_056949.4:p.Ile295Phe
XM_006722526.3:c.988A>T	XP_006722589.1:p.Ile330Phe
XM_024451238.1:c.883A>T	XP_024307006.1:p.Ile295Phe
XR_001753266.1:n.1249A>T
XR_001753561.1:n.529-2005T>A
XR_935423.2:n.698-2005T>A
NM_001128588.4:c.1051A>T	NP_001122060.3:p.Ile351Phe
NM_001146036.3:c.883A>T	NP_001139508.2:p.Ile295Phe
NM_001308278.2:c.568A>T	NP_001295207.1:p.Ile190Phe
NM_001308279.2:c.487A>T	NP_001295208.1:p.Ile163Phe