Canonical Allele Identifier: CA402329132

Gene: SLC14A1

Linked Data

• MyVariant Identifiers: chr18:g.43319625G>C (hg19) ; chr18:g.45739660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739660G>C , CM000680.2:g.45739660G>C	GRCh38
NC_000018.9:g.43319625G>C , CM000680.1:g.43319625G>C	GRCh37
NC_000018.8:g.41573623G>C	NCBI36
NG_011775.3:g.20534G>C
NG_011775.4:g.57636G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.944G>C MANE Select	ENSP00000318546.4:p.Cys315Ser
ENST00000502059.7:c.*297G>C	ENSP00000442180.2:n.*297G>C
ENST00000586951.6:c.944G>C	ENSP00000465702.2:p.Cys315Ser
ENST00000588179.6:c.*274G>C	ENSP00000467898.2:n.*274G>C
ENST00000589322.7:c.548G>C	ENSP00000466273.3:p.Cys183Ser
ENST00000321925.8:c.944G>C	ENSP00000318546.4:p.Cys315Ser
ENST00000402943.6:c.629G>C	ENSP00000385320.2:p.Cys210Ser
ENST00000415427.7:c.1112G>C	ENSP00000412309.2:p.Cys371Ser
ENST00000436407.7:c.1112G>C	ENSP00000390637.2:p.Cys371Ser
ENST00000502059.6:c.620G>C	ENSP00000442180.1:p.Cys207Ser
ENST00000535474.5:c.548G>C	ENSP00000441998.1:p.Cys183Ser
ENST00000586142.5:c.944G>C	ENSP00000470476.1:p.Cys315Ser
ENST00000586854.1:n.377G>C
ENST00000588179.5:c.*274G>C	ENSP00000467898.2:n.*274G>C
ENST00000589700.5:c.796G>C	ENSP00000465044.1:p.Val266Leu
ENST00000590377.1:c.386+3012G>C
ENST00000591541.2:n.159G>C
ENST00000619403.4:c.796G>C	ENSP00000479595.1:p.Val266Leu
NM_001128588.3:c.1112G>C	NP_001122060.3:p.Cys371Ser
NM_001146036.2:c.944G>C	NP_001139508.2:p.Cys315Ser
NM_001146037.1:c.1112G>C	NP_001139509.1:p.Cys371Ser
NM_001308278.1:c.629G>C	NP_001295207.1:p.Cys210Ser
NM_001308279.1:c.548G>C	NP_001295208.1:p.Cys183Ser
NM_015865.6:c.944G>C	NP_056949.4:p.Cys315Ser
XM_005258329.1:c.1112G>C	XP_005258386.1:p.Cys371Ser
XM_005258333.1:c.548G>C	XP_005258390.1:p.Cys183Ser
XM_006722526.2:c.1049G>C	XP_006722589.1:p.Cys350Ser
XM_011526141.1:c.1049G>C	XP_011524443.1:p.Cys350Ser
XM_011526142.1:c.1049G>C	XP_011524444.1:p.Cys350Ser
XM_011526143.1:c.1112G>C	XP_011524445.1:p.Cys371Ser
XM_011526144.1:c.1112G>C	XP_011524446.1:p.Cys371Ser
XR_935425.1:n.680-2066C>G
NM_015865.7:c.944G>C MANE Select	NP_056949.4:p.Cys315Ser
XM_006722526.3:c.1049G>C	XP_006722589.1:p.Cys350Ser
XM_024451238.1:c.944G>C	XP_024307006.1:p.Cys315Ser
XR_001753266.1:n.1310G>C
XR_001753561.1:n.529-2066C>G
XR_935423.2:n.698-2066C>G
NM_001128588.4:c.1112G>C	NP_001122060.3:p.Cys371Ser
NM_001146036.3:c.944G>C	NP_001139508.2:p.Cys315Ser
NM_001308278.2:c.629G>C	NP_001295207.1:p.Cys210Ser
NM_001308279.2:c.548G>C	NP_001295208.1:p.Cys183Ser