Canonical Allele Identifier: CA2300515700

Gene: SLC14A1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739644C= , CM000680.2:g.45739644C=	GRCh38
NC_000018.9:g.43319609C= , CM000680.1:g.43319609C=	GRCh37
NC_000018.8:g.41573607C=	NCBI36
NG_011775.3:g.20518C=
NG_011775.4:g.57620C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.928C= MANE Select	ENSP00000318546.4:p.Leu310=
ENST00000502059.7:c.*281C=	ENSP00000442180.2:n.*281C=
ENST00000586951.6:c.928C=	ENSP00000465702.2:p.Leu310=
ENST00000588179.6:c.*258C=	ENSP00000467898.2:n.*258C=
ENST00000589322.7:c.532C=	ENSP00000466273.3:p.Leu178=
ENST00000321925.8:c.928C=	ENSP00000318546.4:p.Leu310=
ENST00000402943.6:c.613C=	ENSP00000385320.2:p.Leu205=
ENST00000415427.7:c.1096C=	ENSP00000412309.2:p.Leu366=
ENST00000436407.7:c.1096C=	ENSP00000390637.2:p.Leu366=
ENST00000502059.6:c.604C=	ENSP00000442180.1:p.Leu202=
ENST00000535474.5:c.532C=	ENSP00000441998.1:p.Leu178=
ENST00000586142.5:c.928C=	ENSP00000470476.1:p.Leu310=
ENST00000586854.1:n.361C=
ENST00000588179.5:c.*258C=	ENSP00000467898.2:n.*258C=
ENST00000589700.5:c.780C=	ENSP00000465044.1:p.Thr260=
ENST00000590377.1:c.386+2996C=
ENST00000591541.2:n.143C=
ENST00000619403.4:c.780C=	ENSP00000479595.1:p.Thr260=
NM_001128588.3:c.1096C=	NP_001122060.3:p.Leu366=
NM_001146036.2:c.928C=	NP_001139508.2:p.Leu310=
NM_001146037.1:c.1096C=	NP_001139509.1:p.Leu366=
NM_001308278.1:c.613C=	NP_001295207.1:p.Leu205=
NM_001308279.1:c.532C=	NP_001295208.1:p.Leu178=
NM_015865.6:c.928C=	NP_056949.4:p.Leu310=
XM_005258329.1:c.1096C=	XP_005258386.1:p.Leu366=
XM_005258333.1:c.532C=	XP_005258390.1:p.Leu178=
XM_006722526.2:c.1033C=	XP_006722589.1:p.Leu345=
XM_011526141.1:c.1033C=	XP_011524443.1:p.Leu345=
XM_011526142.1:c.1033C=	XP_011524444.1:p.Leu345=
XM_011526143.1:c.1096C=	XP_011524445.1:p.Leu366=
XM_011526144.1:c.1096C=	XP_011524446.1:p.Leu366=
XR_935425.1:n.680-2050G=
NM_015865.7:c.928C= MANE Select	NP_056949.4:p.Leu310=
XM_006722526.3:c.1033C=	XP_006722589.1:p.Leu345=
XM_024451238.1:c.928C=	XP_024307006.1:p.Leu310=
XR_001753266.1:n.1294C=
XR_001753561.1:n.529-2050G=
XR_935423.2:n.698-2050G=
NM_001128588.4:c.1096C=	NP_001122060.3:p.Leu366=
NM_001146036.3:c.928C=	NP_001139508.2:p.Leu310=
NM_001308278.2:c.613C=	NP_001295207.1:p.Leu205=
NM_001308279.2:c.532C=	NP_001295208.1:p.Leu178=