Canonical Allele Identifier: CA402329034

Gene: SLC14A1

Linked Data

• MyVariant Identifiers: chr18:g.43319590G>T (hg19) ; chr18:g.45739625G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739625G>T , CM000680.2:g.45739625G>T	GRCh38
NC_000018.9:g.43319590G>T , CM000680.1:g.43319590G>T	GRCh37
NC_000018.8:g.41573588G>T	NCBI36
NG_011775.3:g.20499G>T
NG_011775.4:g.57601G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.909G>T MANE Select	ENSP00000318546.4:p.Ala303=
ENST00000502059.7:c.*262G>T	ENSP00000442180.2:n.*262G>T
ENST00000586951.6:c.909G>T	ENSP00000465702.2:p.Ala303=
ENST00000588179.6:c.*239G>T	ENSP00000467898.2:n.*239G>T
ENST00000589322.7:c.513G>T	ENSP00000466273.3:p.Ala171=
ENST00000321925.8:c.909G>T	ENSP00000318546.4:p.Ala303=
ENST00000402943.6:c.594G>T	ENSP00000385320.2:p.Ala198=
ENST00000415427.7:c.1077G>T	ENSP00000412309.2:p.Ala359=
ENST00000436407.7:c.1077G>T	ENSP00000390637.2:p.Ala359=
ENST00000502059.6:c.585G>T	ENSP00000442180.1:p.Ala195=
ENST00000535474.5:c.513G>T	ENSP00000441998.1:p.Ala171=
ENST00000586142.5:c.909G>T	ENSP00000470476.1:p.Ala303=
ENST00000586854.1:n.342G>T
ENST00000588179.5:c.*239G>T	ENSP00000467898.2:n.*239G>T
ENST00000589700.5:c.761G>T	ENSP00000465044.1:p.Arg254Leu
ENST00000590377.1:c.386+2977G>T
ENST00000591541.2:n.124G>T
ENST00000619403.4:c.761G>T	ENSP00000479595.1:p.Arg254Leu
NM_001128588.3:c.1077G>T	NP_001122060.3:p.Ala359=
NM_001146036.2:c.909G>T	NP_001139508.2:p.Ala303=
NM_001146037.1:c.1077G>T	NP_001139509.1:p.Ala359=
NM_001308278.1:c.594G>T	NP_001295207.1:p.Ala198=
NM_001308279.1:c.513G>T	NP_001295208.1:p.Ala171=
NM_015865.6:c.909G>T	NP_056949.4:p.Ala303=
XM_005258329.1:c.1077G>T	XP_005258386.1:p.Ala359=
XM_005258333.1:c.513G>T	XP_005258390.1:p.Ala171=
XM_006722526.2:c.1014G>T	XP_006722589.1:p.Ala338=
XM_011526141.1:c.1014G>T	XP_011524443.1:p.Ala338=
XM_011526142.1:c.1014G>T	XP_011524444.1:p.Ala338=
XM_011526143.1:c.1077G>T	XP_011524445.1:p.Ala359=
XM_011526144.1:c.1077G>T	XP_011524446.1:p.Ala359=
XR_935425.1:n.680-2031C>A
NM_015865.7:c.909G>T MANE Select	NP_056949.4:p.Ala303=
XM_006722526.3:c.1014G>T	XP_006722589.1:p.Ala338=
XM_024451238.1:c.909G>T	XP_024307006.1:p.Ala303=
XR_001753266.1:n.1275G>T
XR_001753561.1:n.529-2031C>A
XR_935423.2:n.698-2031C>A
NM_001128588.4:c.1077G>T	NP_001122060.3:p.Ala359=
NM_001146036.3:c.909G>T	NP_001139508.2:p.Ala303=
NM_001308278.2:c.594G>T	NP_001295207.1:p.Ala198=
NM_001308279.2:c.513G>T	NP_001295208.1:p.Ala171=