Canonical Allele Identifier: CA402328979

Gene: SLC14A1

Linked Data

• gnomAD v4: 18-45739605-A-G
• MyVariant Identifiers: chr18:g.43319570A>G (hg19) ; chr18:g.45739605A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739605A>G , CM000680.2:g.45739605A>G	GRCh38
NC_000018.9:g.43319570A>G , CM000680.1:g.43319570A>G	GRCh37
NC_000018.8:g.41573568A>G	NCBI36
NG_011775.3:g.20479A>G
NG_011775.4:g.57581A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.889A>G MANE Select	ENSP00000318546.4:p.Met297Val
ENST00000502059.7:c.*242A>G	ENSP00000442180.2:n.*242A>G
ENST00000586951.6:c.889A>G	ENSP00000465702.2:p.Met297Val
ENST00000588179.6:c.*219A>G	ENSP00000467898.2:n.*219A>G
ENST00000589322.7:c.493A>G	ENSP00000466273.3:p.Met165Val
ENST00000321925.8:c.889A>G	ENSP00000318546.4:p.Met297Val
ENST00000402943.6:c.574A>G	ENSP00000385320.2:p.Met192Val
ENST00000415427.7:c.1057A>G	ENSP00000412309.2:p.Met353Val
ENST00000436407.7:c.1057A>G	ENSP00000390637.2:p.Met353Val
ENST00000502059.6:c.565A>G	ENSP00000442180.1:p.Met189Val
ENST00000535474.5:c.493A>G	ENSP00000441998.1:p.Met165Val
ENST00000586142.5:c.889A>G	ENSP00000470476.1:p.Met297Val
ENST00000586854.1:n.322A>G
ENST00000588179.5:c.*219A>G	ENSP00000467898.2:n.*219A>G
ENST00000589322.6:c.493A>G	ENSP00000466273.2:p.Met165Val
ENST00000589700.5:c.741A>G	ENSP00000465044.1:p.Gln247=
ENST00000590377.1:c.386+2957A>G
ENST00000591541.2:n.104A>G
ENST00000619403.4:c.741A>G	ENSP00000479595.1:p.Gln247=
NM_001128588.3:c.1057A>G	NP_001122060.3:p.Met353Val
NM_001146036.2:c.889A>G	NP_001139508.2:p.Met297Val
NM_001146037.1:c.1057A>G	NP_001139509.1:p.Met353Val
NM_001308278.1:c.574A>G	NP_001295207.1:p.Met192Val
NM_001308279.1:c.493A>G	NP_001295208.1:p.Met165Val
NM_015865.6:c.889A>G	NP_056949.4:p.Met297Val
XM_005258329.1:c.1057A>G	XP_005258386.1:p.Met353Val
XM_005258333.1:c.493A>G	XP_005258390.1:p.Met165Val
XM_006722526.2:c.994A>G	XP_006722589.1:p.Met332Val
XM_011526141.1:c.994A>G	XP_011524443.1:p.Met332Val
XM_011526142.1:c.994A>G	XP_011524444.1:p.Met332Val
XM_011526143.1:c.1057A>G	XP_011524445.1:p.Met353Val
XM_011526144.1:c.1057A>G	XP_011524446.1:p.Met353Val
XR_935425.1:n.680-2011T>C
NM_015865.7:c.889A>G MANE Select	NP_056949.4:p.Met297Val
XM_006722526.3:c.994A>G	XP_006722589.1:p.Met332Val
XM_024451238.1:c.889A>G	XP_024307006.1:p.Met297Val
XR_001753266.1:n.1255A>G
XR_001753561.1:n.529-2011T>C
XR_935423.2:n.698-2011T>C
NM_001128588.4:c.1057A>G	NP_001122060.3:p.Met353Val
NM_001146036.3:c.889A>G	NP_001139508.2:p.Met297Val
NM_001308278.2:c.574A>G	NP_001295207.1:p.Met192Val
NM_001308279.2:c.493A>G	NP_001295208.1:p.Met165Val