Canonical Allele Identifier: CA382894524

Gene: SLC37A4 TRAPPC4

Linked Data

• gnomAD v4: 11-119025038-C-T
• MyVariant Identifiers: chr11:g.118895748C>T (hg19) ; chr11:g.119025038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025038C>T , CM000673.2:g.119025038C>T	GRCh38
NC_000011.9:g.118895748C>T , CM000673.1:g.118895748C>T	GRCh37
NC_000011.8:g.118400958C>T	NCBI36
NG_013331.1:g.10868G>A , LRG_187:g.10868G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1372G>A (SLC37A4)
ENST00000697845.1:n.2361G>A (SLC37A4)
ENST00000697846.1:n.1734G>A (SLC37A4)
ENST00000697847.1:n.1445G>A (SLC37A4)
ENST00000697849.1:n.3838G>A (SLC37A4)
ENST00000697850.1:n.2029G>A (SLC37A4)
ENST00000697851.1:n.3000G>A (SLC37A4)
ENST00000638186.1:n.1466G>A (SLC37A4)
ENST00000638360.1:n.1298G>A (SLC37A4)
ENST00000638925.1:n.1431G>A (SLC37A4)
ENST00000650539.1:n.1634G>A (SLC37A4)
ENST00000330775.9:c.1162G>A (SLC37A4)	ENSP00000476242.2:p.Ala388Thr
ENST00000357590.9:c.1228G>A (SLC37A4)	ENSP00000476176.2:p.Ala410Thr
ENST00000524428.5:n.1398G>A (SLC37A4)
ENST00000525039.5:n.1652G>A (SLC37A4)
ENST00000525102.5:n.1920G>A (SLC37A4)
ENST00000525372.5:n.1260G>A (SLC37A4)
ENST00000526275.5:n.1944G>A (SLC37A4)
ENST00000527992.5:n.1390G>A (SLC37A4)
ENST00000530407.5:n.1312G>A (SLC37A4)
ENST00000532085.1:n.5180G>A (SLC37A4)
ENST00000533058.5:c.763C>T (TRAPPC4)	ENSP00000432920.1:p.Gln255Ter
ENST00000538950.5:c.943G>A (SLC37A4)	ENSP00000475991.2:p.Ala315Thr
ENST00000545985.5:c.1162G>A (SLC37A4)	ENSP00000475241.2:p.Ala388Thr
NM_001164277.1:c.1162G>A , LRG_187t1:c.1162G>A (SLC37A4)	NP_001157749.1:p.Ala388Thr
NM_001164278.1:c.1228G>A (SLC37A4)	NP_001157750.1:p.Ala410Thr
NM_001164279.1:c.943G>A (SLC37A4)	NP_001157751.1:p.Ala315Thr
NM_001164280.1:c.1162G>A (SLC37A4)	NP_001157752.1:p.Ala388Thr
NM_001467.5:c.1162G>A (SLC37A4)	NP_001458.1:p.Ala388Thr
NM_001164278.2:c.1228G>A (SLC37A4)	NP_001157750.1:p.Ala410Thr
NM_001164279.2:c.943G>A (SLC37A4)	NP_001157751.1:p.Ala315Thr
NM_001164280.2:c.1162G>A (SLC37A4)	NP_001157752.1:p.Ala388Thr
NM_001467.6:c.1162G>A (SLC37A4)	NP_001458.1:p.Ala388Thr
NM_001164277.2:c.1162G>A (SLC37A4) MANE Select	NP_001157749.1:p.Ala388Thr