Canonical Allele Identifier: CA402329040

Gene: SLC14A1

Linked Data

• MyVariant Identifiers: chr18:g.43319592T>G (hg19) ; chr18:g.45739627T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739627T>G , CM000680.2:g.45739627T>G	GRCh38
NC_000018.9:g.43319592T>G , CM000680.1:g.43319592T>G	GRCh37
NC_000018.8:g.41573590T>G	NCBI36
NG_011775.3:g.20501T>G
NG_011775.4:g.57603T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.911T>G MANE Select	ENSP00000318546.4:p.Leu304Arg
ENST00000502059.7:c.*264T>G	ENSP00000442180.2:n.*264T>G
ENST00000586951.6:c.911T>G	ENSP00000465702.2:p.Leu304Arg
ENST00000588179.6:c.*241T>G	ENSP00000467898.2:n.*241T>G
ENST00000589322.7:c.515T>G	ENSP00000466273.3:p.Leu172Arg
ENST00000321925.8:c.911T>G	ENSP00000318546.4:p.Leu304Arg
ENST00000402943.6:c.596T>G	ENSP00000385320.2:p.Leu199Arg
ENST00000415427.7:c.1079T>G	ENSP00000412309.2:p.Leu360Arg
ENST00000436407.7:c.1079T>G	ENSP00000390637.2:p.Leu360Arg
ENST00000502059.6:c.587T>G	ENSP00000442180.1:p.Leu196Arg
ENST00000535474.5:c.515T>G	ENSP00000441998.1:p.Leu172Arg
ENST00000586142.5:c.911T>G	ENSP00000470476.1:p.Leu304Arg
ENST00000586854.1:n.344T>G
ENST00000588179.5:c.*241T>G	ENSP00000467898.2:n.*241T>G
ENST00000589700.5:c.763T>G	ENSP00000465044.1:p.Ser255Ala
ENST00000590377.1:c.386+2979T>G
ENST00000591541.2:n.126T>G
ENST00000619403.4:c.763T>G	ENSP00000479595.1:p.Ser255Ala
NM_001128588.3:c.1079T>G	NP_001122060.3:p.Leu360Arg
NM_001146036.2:c.911T>G	NP_001139508.2:p.Leu304Arg
NM_001146037.1:c.1079T>G	NP_001139509.1:p.Leu360Arg
NM_001308278.1:c.596T>G	NP_001295207.1:p.Leu199Arg
NM_001308279.1:c.515T>G	NP_001295208.1:p.Leu172Arg
NM_015865.6:c.911T>G	NP_056949.4:p.Leu304Arg
XM_005258329.1:c.1079T>G	XP_005258386.1:p.Leu360Arg
XM_005258333.1:c.515T>G	XP_005258390.1:p.Leu172Arg
XM_006722526.2:c.1016T>G	XP_006722589.1:p.Leu339Arg
XM_011526141.1:c.1016T>G	XP_011524443.1:p.Leu339Arg
XM_011526142.1:c.1016T>G	XP_011524444.1:p.Leu339Arg
XM_011526143.1:c.1079T>G	XP_011524445.1:p.Leu360Arg
XM_011526144.1:c.1079T>G	XP_011524446.1:p.Leu360Arg
XR_935425.1:n.680-2033A>C
NM_015865.7:c.911T>G MANE Select	NP_056949.4:p.Leu304Arg
XM_006722526.3:c.1016T>G	XP_006722589.1:p.Leu339Arg
XM_024451238.1:c.911T>G	XP_024307006.1:p.Leu304Arg
XR_001753266.1:n.1277T>G
XR_001753561.1:n.529-2033A>C
XR_935423.2:n.698-2033A>C
NM_001128588.4:c.1079T>G	NP_001122060.3:p.Leu360Arg
NM_001146036.3:c.911T>G	NP_001139508.2:p.Leu304Arg
NM_001308278.2:c.596T>G	NP_001295207.1:p.Leu199Arg
NM_001308279.2:c.515T>G	NP_001295208.1:p.Leu172Arg