Canonical Allele Identifier: CA402329122

Gene: SLC14A1

Linked Data

• MyVariant Identifiers: chr18:g.43319622G>C (hg19) ; chr18:g.45739657G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739657G>C , CM000680.2:g.45739657G>C	GRCh38
NC_000018.9:g.43319622G>C , CM000680.1:g.43319622G>C	GRCh37
NC_000018.8:g.41573620G>C	NCBI36
NG_011775.3:g.20531G>C
NG_011775.4:g.57633G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.941G>C MANE Select	ENSP00000318546.4:p.Gly314Ala
ENST00000502059.7:c.*294G>C	ENSP00000442180.2:n.*294G>C
ENST00000586951.6:c.941G>C	ENSP00000465702.2:p.Gly314Ala
ENST00000588179.6:c.*271G>C	ENSP00000467898.2:n.*271G>C
ENST00000589322.7:c.545G>C	ENSP00000466273.3:p.Gly182Ala
ENST00000321925.8:c.941G>C	ENSP00000318546.4:p.Gly314Ala
ENST00000402943.6:c.626G>C	ENSP00000385320.2:p.Gly209Ala
ENST00000415427.7:c.1109G>C	ENSP00000412309.2:p.Gly370Ala
ENST00000436407.7:c.1109G>C	ENSP00000390637.2:p.Gly370Ala
ENST00000502059.6:c.617G>C	ENSP00000442180.1:p.Gly206Ala
ENST00000535474.5:c.545G>C	ENSP00000441998.1:p.Gly182Ala
ENST00000586142.5:c.941G>C	ENSP00000470476.1:p.Gly314Ala
ENST00000586854.1:n.374G>C
ENST00000588179.5:c.*271G>C	ENSP00000467898.2:n.*271G>C
ENST00000589700.5:c.793G>C	ENSP00000465044.1:p.Ala265Pro
ENST00000590377.1:c.386+3009G>C
ENST00000591541.2:n.156G>C
ENST00000619403.4:c.793G>C	ENSP00000479595.1:p.Ala265Pro
NM_001128588.3:c.1109G>C	NP_001122060.3:p.Gly370Ala
NM_001146036.2:c.941G>C	NP_001139508.2:p.Gly314Ala
NM_001146037.1:c.1109G>C	NP_001139509.1:p.Gly370Ala
NM_001308278.1:c.626G>C	NP_001295207.1:p.Gly209Ala
NM_001308279.1:c.545G>C	NP_001295208.1:p.Gly182Ala
NM_015865.6:c.941G>C	NP_056949.4:p.Gly314Ala
XM_005258329.1:c.1109G>C	XP_005258386.1:p.Gly370Ala
XM_005258333.1:c.545G>C	XP_005258390.1:p.Gly182Ala
XM_006722526.2:c.1046G>C	XP_006722589.1:p.Gly349Ala
XM_011526141.1:c.1046G>C	XP_011524443.1:p.Gly349Ala
XM_011526142.1:c.1046G>C	XP_011524444.1:p.Gly349Ala
XM_011526143.1:c.1109G>C	XP_011524445.1:p.Gly370Ala
XM_011526144.1:c.1109G>C	XP_011524446.1:p.Gly370Ala
XR_935425.1:n.680-2063C>G
NM_015865.7:c.941G>C MANE Select	NP_056949.4:p.Gly314Ala
XM_006722526.3:c.1046G>C	XP_006722589.1:p.Gly349Ala
XM_024451238.1:c.941G>C	XP_024307006.1:p.Gly314Ala
XR_001753266.1:n.1307G>C
XR_001753561.1:n.529-2063C>G
XR_935423.2:n.698-2063C>G
NM_001128588.4:c.1109G>C	NP_001122060.3:p.Gly370Ala
NM_001146036.3:c.941G>C	NP_001139508.2:p.Gly314Ala
NM_001308278.2:c.626G>C	NP_001295207.1:p.Gly209Ala
NM_001308279.2:c.545G>C	NP_001295208.1:p.Gly182Ala