Canonical Allele Identifier: CA382893996

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 2835376
• ClinVar RCV Id: RCV003618735
• MyVariant Identifiers: chr11:g.118895698A>T (hg19) ; chr11:g.119024988A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119024988A>T , CM000673.2:g.119024988A>T	GRCh38
NC_000011.9:g.118895698A>T , CM000673.1:g.118895698A>T	GRCh37
NC_000011.8:g.118400908A>T	NCBI36
NG_013331.1:g.10918T>A , LRG_187:g.10918T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1422T>A (SLC37A4)
ENST00000697845.1:n.2411T>A (SLC37A4)
ENST00000697846.1:n.1784T>A (SLC37A4)
ENST00000697847.1:n.1495T>A (SLC37A4)
ENST00000697849.1:n.3888T>A (SLC37A4)
ENST00000697850.1:n.2079T>A (SLC37A4)
ENST00000697851.1:n.3050T>A (SLC37A4)
ENST00000638186.1:n.1516T>A (SLC37A4)
ENST00000638360.1:n.1348T>A (SLC37A4)
ENST00000638925.1:n.1481T>A (SLC37A4)
ENST00000650539.1:n.1684T>A (SLC37A4)
ENST00000330775.9:c.1212T>A (SLC37A4)	ENSP00000476242.2:p.Cys404Ter
ENST00000357590.9:c.1278T>A (SLC37A4)	ENSP00000476176.2:p.Cys426Ter
ENST00000524428.5:n.1448T>A (SLC37A4)
ENST00000525039.5:n.1702T>A (SLC37A4)
ENST00000525102.5:n.1970T>A (SLC37A4)
ENST00000525372.5:n.1310T>A (SLC37A4)
ENST00000526275.5:n.1994T>A (SLC37A4)
ENST00000527992.5:n.1440T>A (SLC37A4)
ENST00000530407.5:n.1362T>A (SLC37A4)
ENST00000532085.1:n.5230T>A (SLC37A4)
ENST00000533058.5:c.713A>T (TRAPPC4)	ENSP00000432920.1:p.His238Leu
ENST00000538950.5:c.993T>A (SLC37A4)	ENSP00000475991.2:p.Cys331Ter
ENST00000545985.5:c.1212T>A (SLC37A4)	ENSP00000475241.2:p.Cys404Ter
NM_001164277.1:c.1212T>A , LRG_187t1:c.1212T>A (SLC37A4)	NP_001157749.1:p.Cys404Ter
NM_001164278.1:c.1278T>A (SLC37A4)	NP_001157750.1:p.Cys426Ter
NM_001164279.1:c.993T>A (SLC37A4)	NP_001157751.1:p.Cys331Ter
NM_001164280.1:c.1212T>A (SLC37A4)	NP_001157752.1:p.Cys404Ter
NM_001467.5:c.1212T>A (SLC37A4)	NP_001458.1:p.Cys404Ter
NM_001164278.2:c.1278T>A (SLC37A4)	NP_001157750.1:p.Cys426Ter
NM_001164279.2:c.993T>A (SLC37A4)	NP_001157751.1:p.Cys331Ter
NM_001164280.2:c.1212T>A (SLC37A4)	NP_001157752.1:p.Cys404Ter
NM_001467.6:c.1212T>A (SLC37A4)	NP_001458.1:p.Cys404Ter
NM_001164277.2:c.1212T>A (SLC37A4) MANE Select	NP_001157749.1:p.Cys404Ter