Canonical Allele Identifier: CA402328920

Gene: SLC14A1

Linked Data

• MyVariant Identifiers: chr18:g.43319549A>T (hg19) ; chr18:g.45739584A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739584A>T , CM000680.2:g.45739584A>T	GRCh38
NC_000018.9:g.43319549A>T , CM000680.1:g.43319549A>T	GRCh37
NC_000018.8:g.41573547A>T	NCBI36
NG_011775.3:g.20458A>T
NG_011775.4:g.57560A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.868A>T MANE Select	ENSP00000318546.4:p.Ser290Cys
ENST00000502059.7:c.*221A>T	ENSP00000442180.2:n.*221A>T
ENST00000586951.6:c.868A>T	ENSP00000465702.2:p.Ser290Cys
ENST00000588179.6:c.*198A>T	ENSP00000467898.2:n.*198A>T
ENST00000589322.7:c.472A>T	ENSP00000466273.3:p.Ser158Cys
ENST00000321925.8:c.868A>T	ENSP00000318546.4:p.Ser290Cys
ENST00000402943.6:c.553A>T	ENSP00000385320.2:p.Ser185Cys
ENST00000415427.7:c.1036A>T	ENSP00000412309.2:p.Ser346Cys
ENST00000436407.7:c.1036A>T	ENSP00000390637.2:p.Ser346Cys
ENST00000502059.6:c.544A>T	ENSP00000442180.1:p.Ser182Cys
ENST00000535474.5:c.472A>T	ENSP00000441998.1:p.Ser158Cys
ENST00000586142.5:c.868A>T	ENSP00000470476.1:p.Ser290Cys
ENST00000586854.1:n.301A>T
ENST00000588179.5:c.*198A>T	ENSP00000467898.2:n.*198A>T
ENST00000589322.6:c.472A>T	ENSP00000466273.2:p.Ser158Cys
ENST00000589700.5:c.720A>T	ENSP00000465044.1:p.Thr240=
ENST00000590377.1:c.386+2936A>T
ENST00000591541.2:n.83A>T
ENST00000619403.4:c.720A>T	ENSP00000479595.1:p.Thr240=
NM_001128588.3:c.1036A>T	NP_001122060.3:p.Ser346Cys
NM_001146036.2:c.868A>T	NP_001139508.2:p.Ser290Cys
NM_001146037.1:c.1036A>T	NP_001139509.1:p.Ser346Cys
NM_001308278.1:c.553A>T	NP_001295207.1:p.Ser185Cys
NM_001308279.1:c.472A>T	NP_001295208.1:p.Ser158Cys
NM_015865.6:c.868A>T	NP_056949.4:p.Ser290Cys
XM_005258329.1:c.1036A>T	XP_005258386.1:p.Ser346Cys
XM_005258333.1:c.472A>T	XP_005258390.1:p.Ser158Cys
XM_006722526.2:c.973A>T	XP_006722589.1:p.Ser325Cys
XM_011526141.1:c.973A>T	XP_011524443.1:p.Ser325Cys
XM_011526142.1:c.973A>T	XP_011524444.1:p.Ser325Cys
XM_011526143.1:c.1036A>T	XP_011524445.1:p.Ser346Cys
XM_011526144.1:c.1036A>T	XP_011524446.1:p.Ser346Cys
XR_935425.1:n.680-1990T>A
NM_015865.7:c.868A>T MANE Select	NP_056949.4:p.Ser290Cys
XM_006722526.3:c.973A>T	XP_006722589.1:p.Ser325Cys
XM_024451238.1:c.868A>T	XP_024307006.1:p.Ser290Cys
XR_001753266.1:n.1234A>T
XR_001753561.1:n.529-1990T>A
XR_935423.2:n.698-1990T>A
NM_001128588.4:c.1036A>T	NP_001122060.3:p.Ser346Cys
NM_001146036.3:c.868A>T	NP_001139508.2:p.Ser290Cys
NM_001308278.2:c.553A>T	NP_001295207.1:p.Ser185Cys
NM_001308279.2:c.472A>T	NP_001295208.1:p.Ser158Cys