Canonical Allele Identifier: CA382895394
Gene: SLC37A4 HGNC NCBI
TRAPPC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2017227
ClinVar RCV Id: RCV002835096

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119025215C>G , CM000673.2:g.119025215C>G GRCh38
NC_000011.9:g.118895925C>G , CM000673.1:g.118895925C>G GRCh37
NC_000011.8:g.118401135C>G NCBI36
NG_013331.1:g.10691G>C , LRG_187:g.10691G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000529510.6:n.1309G>C (SLC37A4)
ENST00000697845.1:n.2298G>C (SLC37A4)
ENST00000697846.1:n.1671G>C (SLC37A4)
ENST00000697847.1:n.1382G>C (SLC37A4)
ENST00000697849.1:n.3775G>C (SLC37A4)
ENST00000697850.1:n.1966G>C (SLC37A4)
ENST00000697851.1:n.2937G>C (SLC37A4)
ENST00000638186.1:n.1403G>C (SLC37A4)
ENST00000638360.1:n.1235G>C (SLC37A4)
ENST00000638925.1:n.1368G>C (SLC37A4)
ENST00000650539.1:n.1571G>C (SLC37A4)
ENST00000330775.9:c.1099G>C (SLC37A4) ENSP00000476242.2:p.Ala367Pro
ENST00000357590.9:c.1165G>C (SLC37A4) ENSP00000476176.2:p.Ala389Pro
ENST00000524428.5:n.1335G>C (SLC37A4)
ENST00000525039.5:n.1589G>C (SLC37A4)
ENST00000525102.5:n.1857G>C (SLC37A4)
ENST00000525372.5:n.1197G>C (SLC37A4)
ENST00000526275.5:n.1881G>C (SLC37A4)
ENST00000527992.5:n.1327G>C (SLC37A4)
ENST00000529510.5:n.787G>C (SLC37A4)
ENST00000530407.5:n.1249G>C (SLC37A4)
ENST00000532085.1:n.5117G>C (SLC37A4)
ENST00000533058.5:c.*166C>G (TRAPPC4) ENSP00000432920.1:n.*166C>G
ENST00000538950.5:c.880G>C (SLC37A4) ENSP00000475991.2:p.Ala294Pro
ENST00000545985.5:c.1099G>C (SLC37A4) ENSP00000475241.2:p.Ala367Pro
NM_001164277.1:c.1099G>C , LRG_187t1:c.1099G>C (SLC37A4) NP_001157749.1:p.Ala367Pro
NM_001164278.1:c.1165G>C (SLC37A4) NP_001157750.1:p.Ala389Pro
NM_001164279.1:c.880G>C (SLC37A4) NP_001157751.1:p.Ala294Pro
NM_001164280.1:c.1099G>C (SLC37A4) NP_001157752.1:p.Ala367Pro
NM_001467.5:c.1099G>C (SLC37A4) NP_001458.1:p.Ala367Pro
NM_001164278.2:c.1165G>C (SLC37A4) NP_001157750.1:p.Ala389Pro
NM_001164279.2:c.880G>C (SLC37A4) NP_001157751.1:p.Ala294Pro
NM_001164280.2:c.1099G>C (SLC37A4) NP_001157752.1:p.Ala367Pro
NM_001467.6:c.1099G>C (SLC37A4) NP_001458.1:p.Ala367Pro
NM_001164277.2:c.1099G>C (SLC37A4) MANE Select NP_001157749.1:p.Ala367Pro