Canonical Allele Identifier: CA402329010

Gene: SLC14A1

Linked Data

• MyVariant Identifiers: chr18:g.43319581G>T (hg19) ; chr18:g.45739616G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739616G>T , CM000680.2:g.45739616G>T	GRCh38
NC_000018.9:g.43319581G>T , CM000680.1:g.43319581G>T	GRCh37
NC_000018.8:g.41573579G>T	NCBI36
NG_011775.3:g.20490G>T
NG_011775.4:g.57592G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.900G>T MANE Select	ENSP00000318546.4:p.Met300Ile
ENST00000502059.7:c.*253G>T	ENSP00000442180.2:n.*253G>T
ENST00000586951.6:c.900G>T	ENSP00000465702.2:p.Met300Ile
ENST00000588179.6:c.*230G>T	ENSP00000467898.2:n.*230G>T
ENST00000589322.7:c.504G>T	ENSP00000466273.3:p.Met168Ile
ENST00000321925.8:c.900G>T	ENSP00000318546.4:p.Met300Ile
ENST00000402943.6:c.585G>T	ENSP00000385320.2:p.Met195Ile
ENST00000415427.7:c.1068G>T	ENSP00000412309.2:p.Met356Ile
ENST00000436407.7:c.1068G>T	ENSP00000390637.2:p.Met356Ile
ENST00000502059.6:c.576G>T	ENSP00000442180.1:p.Met192Ile
ENST00000535474.5:c.504G>T	ENSP00000441998.1:p.Met168Ile
ENST00000586142.5:c.900G>T	ENSP00000470476.1:p.Met300Ile
ENST00000586854.1:n.333G>T
ENST00000588179.5:c.*230G>T	ENSP00000467898.2:n.*230G>T
ENST00000589322.6:c.504G>T	ENSP00000466273.2:p.Met168Ile
ENST00000589700.5:c.752G>T	ENSP00000465044.1:p.Cys251Phe
ENST00000590377.1:c.386+2968G>T
ENST00000591541.2:n.115G>T
ENST00000619403.4:c.752G>T	ENSP00000479595.1:p.Cys251Phe
NM_001128588.3:c.1068G>T	NP_001122060.3:p.Met356Ile
NM_001146036.2:c.900G>T	NP_001139508.2:p.Met300Ile
NM_001146037.1:c.1068G>T	NP_001139509.1:p.Met356Ile
NM_001308278.1:c.585G>T	NP_001295207.1:p.Met195Ile
NM_001308279.1:c.504G>T	NP_001295208.1:p.Met168Ile
NM_015865.6:c.900G>T	NP_056949.4:p.Met300Ile
XM_005258329.1:c.1068G>T	XP_005258386.1:p.Met356Ile
XM_005258333.1:c.504G>T	XP_005258390.1:p.Met168Ile
XM_006722526.2:c.1005G>T	XP_006722589.1:p.Met335Ile
XM_011526141.1:c.1005G>T	XP_011524443.1:p.Met335Ile
XM_011526142.1:c.1005G>T	XP_011524444.1:p.Met335Ile
XM_011526143.1:c.1068G>T	XP_011524445.1:p.Met356Ile
XM_011526144.1:c.1068G>T	XP_011524446.1:p.Met356Ile
XR_935425.1:n.680-2022C>A
NM_015865.7:c.900G>T MANE Select	NP_056949.4:p.Met300Ile
XM_006722526.3:c.1005G>T	XP_006722589.1:p.Met335Ile
XM_024451238.1:c.900G>T	XP_024307006.1:p.Met300Ile
XR_001753266.1:n.1266G>T
XR_001753561.1:n.529-2022C>A
XR_935423.2:n.698-2022C>A
NM_001128588.4:c.1068G>T	NP_001122060.3:p.Met356Ile
NM_001146036.3:c.900G>T	NP_001139508.2:p.Met300Ile
NM_001308278.2:c.585G>T	NP_001295207.1:p.Met195Ile
NM_001308279.2:c.504G>T	NP_001295208.1:p.Met168Ile