Canonical Allele Identifier: CA402329020

Gene: SLC14A1

Linked Data

• gnomAD v4: 18-45739620-A-G
• MyVariant Identifiers: chr18:g.43319585A>G (hg19) ; chr18:g.45739620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45739620A>G , CM000680.2:g.45739620A>G	GRCh38
NC_000018.9:g.43319585A>G , CM000680.1:g.43319585A>G	GRCh37
NC_000018.8:g.41573583A>G	NCBI36
NG_011775.3:g.20494A>G
NG_011775.4:g.57596A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321925.9:c.904A>G MANE Select	ENSP00000318546.4:p.Met302Val
ENST00000502059.7:c.*257A>G	ENSP00000442180.2:n.*257A>G
ENST00000586951.6:c.904A>G	ENSP00000465702.2:p.Met302Val
ENST00000588179.6:c.*234A>G	ENSP00000467898.2:n.*234A>G
ENST00000589322.7:c.508A>G	ENSP00000466273.3:p.Met170Val
ENST00000321925.8:c.904A>G	ENSP00000318546.4:p.Met302Val
ENST00000402943.6:c.589A>G	ENSP00000385320.2:p.Met197Val
ENST00000415427.7:c.1072A>G	ENSP00000412309.2:p.Met358Val
ENST00000436407.7:c.1072A>G	ENSP00000390637.2:p.Met358Val
ENST00000502059.6:c.580A>G	ENSP00000442180.1:p.Met194Val
ENST00000535474.5:c.508A>G	ENSP00000441998.1:p.Met170Val
ENST00000586142.5:c.904A>G	ENSP00000470476.1:p.Met302Val
ENST00000586854.1:n.337A>G
ENST00000588179.5:c.*234A>G	ENSP00000467898.2:n.*234A>G
ENST00000589700.5:c.756A>G	ENSP00000465044.1:p.Ser252=
ENST00000590377.1:c.386+2972A>G
ENST00000591541.2:n.119A>G
ENST00000619403.4:c.756A>G	ENSP00000479595.1:p.Ser252=
NM_001128588.3:c.1072A>G	NP_001122060.3:p.Met358Val
NM_001146036.2:c.904A>G	NP_001139508.2:p.Met302Val
NM_001146037.1:c.1072A>G	NP_001139509.1:p.Met358Val
NM_001308278.1:c.589A>G	NP_001295207.1:p.Met197Val
NM_001308279.1:c.508A>G	NP_001295208.1:p.Met170Val
NM_015865.6:c.904A>G	NP_056949.4:p.Met302Val
XM_005258329.1:c.1072A>G	XP_005258386.1:p.Met358Val
XM_005258333.1:c.508A>G	XP_005258390.1:p.Met170Val
XM_006722526.2:c.1009A>G	XP_006722589.1:p.Met337Val
XM_011526141.1:c.1009A>G	XP_011524443.1:p.Met337Val
XM_011526142.1:c.1009A>G	XP_011524444.1:p.Met337Val
XM_011526143.1:c.1072A>G	XP_011524445.1:p.Met358Val
XM_011526144.1:c.1072A>G	XP_011524446.1:p.Met358Val
XR_935425.1:n.680-2026T>C
NM_015865.7:c.904A>G MANE Select	NP_056949.4:p.Met302Val
XM_006722526.3:c.1009A>G	XP_006722589.1:p.Met337Val
XM_024451238.1:c.904A>G	XP_024307006.1:p.Met302Val
XR_001753266.1:n.1270A>G
XR_001753561.1:n.529-2026T>C
XR_935423.2:n.698-2026T>C
NM_001128588.4:c.1072A>G	NP_001122060.3:p.Met358Val
NM_001146036.3:c.904A>G	NP_001139508.2:p.Met302Val
NM_001308278.2:c.589A>G	NP_001295207.1:p.Met197Val
NM_001308279.2:c.508A>G	NP_001295208.1:p.Met170Val