Canonical Allele Identifier: CA382893757
Community Standard Title: NM_001164277.2(SLC37A4):c.1240C>G (p.Leu414Val)
Gene: SLC37A4 HGNC NCBI
TRAPPC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119024960G>C , CM000673.2:g.119024960G>C GRCh38
NC_000011.9:g.118895670G>C , CM000673.1:g.118895670G>C GRCh37
NC_000011.8:g.118400880G>C NCBI36
NG_013331.1:g.10946C>G , LRG_187:g.10946C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001164277.2:c.1240C>G (SLC37A4) MANE Select NP_001157749.1:p.Leu414Val
NM_001164277.1:c.1240C>G , LRG_187t1:c.1240C>G (SLC37A4) NP_001157749.1:p.Leu414Val
NM_001164278.1:c.1306C>G (SLC37A4) NP_001157750.1:p.Leu436Val
NM_001164278.2:c.1306C>G (SLC37A4) NP_001157750.1:p.Leu436Val
NM_001164279.1:c.1021C>G (SLC37A4) NP_001157751.1:p.Leu341Val
NM_001164279.2:c.1021C>G (SLC37A4) NP_001157751.1:p.Leu341Val
NM_001164280.1:c.1240C>G (SLC37A4) NP_001157752.1:p.Leu414Val
NM_001164280.2:c.1240C>G (SLC37A4) NP_001157752.1:p.Leu414Val
NM_001467.5:c.1240C>G (SLC37A4) NP_001458.1:p.Leu414Val
NM_001467.6:c.1240C>G (SLC37A4) NP_001458.1:p.Leu414Val
ENST00000330775.9:c.1240C>G (SLC37A4) ENSP00000476242.2:p.Leu414Val
ENST00000357590.9:c.1306C>G (SLC37A4) ENSP00000476176.2:p.Leu436Val
ENST00000524428.5:n.1476C>G (SLC37A4)
ENST00000525039.5:n.1730C>G (SLC37A4)
ENST00000525102.5:n.1998C>G (SLC37A4)
ENST00000525372.5:n.1338C>G (SLC37A4)
ENST00000526275.5:n.2022C>G (SLC37A4)
ENST00000527992.5:n.1468C>G (SLC37A4)
ENST00000529510.6:n.1450C>G (SLC37A4)
ENST00000530407.5:n.1390C>G (SLC37A4)
ENST00000532085.1:n.5258C>G (SLC37A4)
ENST00000533058.5:c.685G>C (TRAPPC4) ENSP00000432920.1:p.Gly229Arg
ENST00000538950.5:c.1021C>G (SLC37A4) ENSP00000475991.2:p.Leu341Val
ENST00000545985.5:c.1240C>G (SLC37A4) ENSP00000475241.2:p.Leu414Val
ENST00000638186.1:n.1544C>G (SLC37A4)
ENST00000638360.1:n.1376C>G (SLC37A4)
ENST00000638925.1:n.1509C>G (SLC37A4)
ENST00000650539.1:n.1712C>G (SLC37A4)
ENST00000697845.1:n.2439C>G (SLC37A4)
ENST00000697846.1:n.1812C>G (SLC37A4)
ENST00000697847.1:n.1523C>G (SLC37A4)
ENST00000697849.1:n.3916C>G (SLC37A4)
ENST00000697850.1:n.2107C>G (SLC37A4)
ENST00000697851.1:n.3078C>G (SLC37A4)