Canonical Allele Identifier: CA382896467
Gene: SLC37A4 HGNC NCBI
TRAPPC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 554795
ClinVar RCV Id: RCV000670487
dbSNP Id: rs1555190563

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119025329G>T , CM000673.2:g.119025329G>T GRCh38
NC_000011.9:g.118896039G>T , CM000673.1:g.118896039G>T GRCh37
NC_000011.8:g.118401249G>T NCBI36
NG_013331.1:g.10577C>A , LRG_187:g.10577C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1195C>A (SLC37A4)
ENST00000697845.1:n.2184C>A (SLC37A4)
ENST00000697846.1:n.1557C>A (SLC37A4)
ENST00000697847.1:n.1268C>A (SLC37A4)
ENST00000697849.1:n.3661C>A (SLC37A4)
ENST00000697850.1:n.1852C>A (SLC37A4)
ENST00000697851.1:n.2823C>A (SLC37A4)
ENST00000638186.1:n.1289C>A (SLC37A4)
ENST00000638360.1:n.1121C>A (SLC37A4)
ENST00000638925.1:n.1254C>A (SLC37A4)
ENST00000650539.1:n.1457C>A (SLC37A4)
ENST00000330775.9:c.985C>A (SLC37A4) ENSP00000476242.2:p.Leu329Ile
ENST00000357590.9:c.1051C>A (SLC37A4) ENSP00000476176.2:p.Leu351Ile
ENST00000524428.5:n.1221C>A (SLC37A4)
ENST00000525039.5:n.1475C>A (SLC37A4)
ENST00000525102.5:n.1743C>A (SLC37A4)
ENST00000525372.5:n.1083C>A (SLC37A4)
ENST00000526275.5:n.1767C>A (SLC37A4)
ENST00000527992.5:n.1213C>A (SLC37A4)
ENST00000529510.5:n.673C>A (SLC37A4)
ENST00000530407.5:n.1135C>A (SLC37A4)
ENST00000532085.1:n.5003C>A (SLC37A4)
ENST00000533058.5:c.*280G>T (TRAPPC4) ENSP00000432920.1:n.*280G>T
ENST00000538950.5:c.766C>A (SLC37A4) ENSP00000475991.2:p.Leu256Ile
ENST00000545985.5:c.985C>A (SLC37A4) ENSP00000475241.2:p.Leu329Ile
NM_001164277.1:c.985C>A , LRG_187t1:c.985C>A (SLC37A4) NP_001157749.1:p.Leu329Ile
NM_001164278.1:c.1051C>A (SLC37A4) NP_001157750.1:p.Leu351Ile
NM_001164279.1:c.766C>A (SLC37A4) NP_001157751.1:p.Leu256Ile
NM_001164280.1:c.985C>A (SLC37A4) NP_001157752.1:p.Leu329Ile
NM_001467.5:c.985C>A (SLC37A4) NP_001458.1:p.Leu329Ile
NM_001164278.2:c.1051C>A (SLC37A4) NP_001157750.1:p.Leu351Ile
NM_001164279.2:c.766C>A (SLC37A4) NP_001157751.1:p.Leu256Ile
NM_001164280.2:c.985C>A (SLC37A4) NP_001157752.1:p.Leu329Ile
NM_001467.6:c.985C>A (SLC37A4) NP_001458.1:p.Leu329Ile
NM_001164277.2:c.985C>A (SLC37A4) MANE Select NP_001157749.1:p.Leu329Ile