Canonical Allele Identifier: CA8947515

Gene: SLC14A1

Linked Data

• dbSNP Id: rs756906464
• ExAC: 18:43319610 T / C
• gnomAD v2: 18-43319610-T-C
• gnomAD v4: 18-45739645-T-C
• MyVariant Identifiers: chr18:g.43319610T>C (hg19) ; chr18:g.45739645T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739645T>C , CM000680.2:g.45739645T>C	GRCh38
NC_000018.9:g.43319610T>C , CM000680.1:g.43319610T>C	GRCh37
NC_000018.8:g.41573608T>C	NCBI36
NG_011775.3:g.20519T>C
NG_011775.4:g.57621T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.929T>C MANE Select	ENSP00000318546.4:p.Leu310Pro
ENST00000502059.7:c.*282T>C	ENSP00000442180.2:n.*282T>C
ENST00000586951.6:c.929T>C	ENSP00000465702.2:p.Leu310Pro
ENST00000588179.6:c.*259T>C	ENSP00000467898.2:n.*259T>C
ENST00000589322.7:c.533T>C	ENSP00000466273.3:p.Leu178Pro
ENST00000321925.8:c.929T>C	ENSP00000318546.4:p.Leu310Pro
ENST00000402943.6:c.614T>C	ENSP00000385320.2:p.Leu205Pro
ENST00000415427.7:c.1097T>C	ENSP00000412309.2:p.Leu366Pro
ENST00000436407.7:c.1097T>C	ENSP00000390637.2:p.Leu366Pro
ENST00000502059.6:c.605T>C	ENSP00000442180.1:p.Leu202Pro
ENST00000535474.5:c.533T>C	ENSP00000441998.1:p.Leu178Pro
ENST00000586142.5:c.929T>C	ENSP00000470476.1:p.Leu310Pro
ENST00000586854.1:n.362T>C
ENST00000588179.5:c.*259T>C	ENSP00000467898.2:n.*259T>C
ENST00000589700.5:c.781T>C	ENSP00000465044.1:p.Ser261Pro
ENST00000590377.1:c.386+2997T>C
ENST00000591541.2:n.144T>C
ENST00000619403.4:c.781T>C	ENSP00000479595.1:p.Ser261Pro
NM_001128588.3:c.1097T>C	NP_001122060.3:p.Leu366Pro
NM_001146036.2:c.929T>C	NP_001139508.2:p.Leu310Pro
NM_001146037.1:c.1097T>C	NP_001139509.1:p.Leu366Pro
NM_001308278.1:c.614T>C	NP_001295207.1:p.Leu205Pro
NM_001308279.1:c.533T>C	NP_001295208.1:p.Leu178Pro
NM_015865.6:c.929T>C	NP_056949.4:p.Leu310Pro
XM_005258329.1:c.1097T>C	XP_005258386.1:p.Leu366Pro
XM_005258333.1:c.533T>C	XP_005258390.1:p.Leu178Pro
XM_006722526.2:c.1034T>C	XP_006722589.1:p.Leu345Pro
XM_011526141.1:c.1034T>C	XP_011524443.1:p.Leu345Pro
XM_011526142.1:c.1034T>C	XP_011524444.1:p.Leu345Pro
XM_011526143.1:c.1097T>C	XP_011524445.1:p.Leu366Pro
XM_011526144.1:c.1097T>C	XP_011524446.1:p.Leu366Pro
XR_935425.1:n.680-2051A>G
NM_015865.7:c.929T>C MANE Select	NP_056949.4:p.Leu310Pro
XM_006722526.3:c.1034T>C	XP_006722589.1:p.Leu345Pro
XM_024451238.1:c.929T>C	XP_024307006.1:p.Leu310Pro
XR_001753266.1:n.1295T>C
XR_001753561.1:n.529-2051A>G
XR_935423.2:n.698-2051A>G
NM_001128588.4:c.1097T>C	NP_001122060.3:p.Leu366Pro
NM_001146036.3:c.929T>C	NP_001139508.2:p.Leu310Pro
NM_001308278.2:c.614T>C	NP_001295207.1:p.Leu205Pro
NM_001308279.2:c.533T>C	NP_001295208.1:p.Leu178Pro