Canonical Allele Identifier: CA382895117

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 574432
• ClinVar RCV Id: RCV000696360 ; RCV002477583
• dbSNP Id: rs1565686175
• MyVariant Identifiers: chr11:g.118895907C>T (hg19) ; chr11:g.119025197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025197C>T , CM000673.2:g.119025197C>T	GRCh38
NC_000011.9:g.118895907C>T , CM000673.1:g.118895907C>T	GRCh37
NC_000011.8:g.118401117C>T	NCBI36
NG_013331.1:g.10709G>A , LRG_187:g.10709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1327G>A (SLC37A4)
ENST00000697845.1:n.2316G>A (SLC37A4)
ENST00000697846.1:n.1689G>A (SLC37A4)
ENST00000697847.1:n.1400G>A (SLC37A4)
ENST00000697849.1:n.3793G>A (SLC37A4)
ENST00000697850.1:n.1984G>A (SLC37A4)
ENST00000697851.1:n.2955G>A (SLC37A4)
ENST00000638186.1:n.1421G>A (SLC37A4)
ENST00000638360.1:n.1253G>A (SLC37A4)
ENST00000638925.1:n.1386G>A (SLC37A4)
ENST00000650539.1:n.1589G>A (SLC37A4)
ENST00000330775.9:c.1117G>A (SLC37A4)	ENSP00000476242.2:p.Ala373Thr
ENST00000357590.9:c.1183G>A (SLC37A4)	ENSP00000476176.2:p.Ala395Thr
ENST00000524428.5:n.1353G>A (SLC37A4)
ENST00000525039.5:n.1607G>A (SLC37A4)
ENST00000525102.5:n.1875G>A (SLC37A4)
ENST00000525372.5:n.1215G>A (SLC37A4)
ENST00000526275.5:n.1899G>A (SLC37A4)
ENST00000527992.5:n.1345G>A (SLC37A4)
ENST00000529510.5:n.805G>A (SLC37A4)
ENST00000530407.5:n.1267G>A (SLC37A4)
ENST00000532085.1:n.5135G>A (SLC37A4)
ENST00000533058.5:c.*148C>T (TRAPPC4)	ENSP00000432920.1:n.*148C>T
ENST00000538950.5:c.898G>A (SLC37A4)	ENSP00000475991.2:p.Ala300Thr
ENST00000545985.5:c.1117G>A (SLC37A4)	ENSP00000475241.2:p.Ala373Thr
NM_001164277.1:c.1117G>A , LRG_187t1:c.1117G>A (SLC37A4)	NP_001157749.1:p.Ala373Thr
NM_001164278.1:c.1183G>A (SLC37A4)	NP_001157750.1:p.Ala395Thr
NM_001164279.1:c.898G>A (SLC37A4)	NP_001157751.1:p.Ala300Thr
NM_001164280.1:c.1117G>A (SLC37A4)	NP_001157752.1:p.Ala373Thr
NM_001467.5:c.1117G>A (SLC37A4)	NP_001458.1:p.Ala373Thr
NM_001164278.2:c.1183G>A (SLC37A4)	NP_001157750.1:p.Ala395Thr
NM_001164279.2:c.898G>A (SLC37A4)	NP_001157751.1:p.Ala300Thr
NM_001164280.2:c.1117G>A (SLC37A4)	NP_001157752.1:p.Ala373Thr
NM_001467.6:c.1117G>A (SLC37A4)	NP_001458.1:p.Ala373Thr
NM_001164277.2:c.1117G>A (SLC37A4) MANE Select	NP_001157749.1:p.Ala373Thr