Canonical Allele Identifier: CA477367371

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 556651
• ClinVar RCV Id: RCV000672683
• dbSNP Id: rs1555190509
• MyVariant Identifiers: chr11:g.118895982G>A (hg19) ; chr11:g.119025272G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025272G>A , CM000673.2:g.119025272G>A	GRCh38
NC_000011.9:g.118895982G>A , CM000673.1:g.118895982G>A	GRCh37
NC_000011.8:g.118401192G>A	NCBI36
NG_013331.1:g.10634C>T , LRG_187:g.10634C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1252C>T (SLC37A4)
ENST00000697845.1:n.2241C>T (SLC37A4)
ENST00000697846.1:n.1614C>T (SLC37A4)
ENST00000697847.1:n.1325C>T (SLC37A4)
ENST00000697849.1:n.3718C>T (SLC37A4)
ENST00000697850.1:n.1909C>T (SLC37A4)
ENST00000697851.1:n.2880C>T (SLC37A4)
ENST00000638186.1:n.1346C>T (SLC37A4)
ENST00000638360.1:n.1178C>T (SLC37A4)
ENST00000638925.1:n.1311C>T (SLC37A4)
ENST00000650539.1:n.1514C>T (SLC37A4)
ENST00000330775.9:c.1042C>T (SLC37A4)	ENSP00000476242.2:p.Leu348=
ENST00000357590.9:c.1108C>T (SLC37A4)	ENSP00000476176.2:p.Leu370=
ENST00000524428.5:n.1278C>T (SLC37A4)
ENST00000525039.5:n.1532C>T (SLC37A4)
ENST00000525102.5:n.1800C>T (SLC37A4)
ENST00000525372.5:n.1140C>T (SLC37A4)
ENST00000526275.5:n.1824C>T (SLC37A4)
ENST00000527992.5:n.1270C>T (SLC37A4)
ENST00000529510.5:n.730C>T (SLC37A4)
ENST00000530407.5:n.1192C>T (SLC37A4)
ENST00000532085.1:n.5060C>T (SLC37A4)
ENST00000533058.5:c.*223G>A (TRAPPC4)	ENSP00000432920.1:n.*223G>A
ENST00000538950.5:c.823C>T (SLC37A4)	ENSP00000475991.2:p.Leu275=
ENST00000545985.5:c.1042C>T (SLC37A4)	ENSP00000475241.2:p.Leu348=
NM_001164277.1:c.1042C>T , LRG_187t1:c.1042C>T (SLC37A4)	NP_001157749.1:p.Leu348=
NM_001164278.1:c.1108C>T (SLC37A4)	NP_001157750.1:p.Leu370=
NM_001164279.1:c.823C>T (SLC37A4)	NP_001157751.1:p.Leu275=
NM_001164280.1:c.1042C>T (SLC37A4)	NP_001157752.1:p.Leu348=
NM_001467.5:c.1042C>T (SLC37A4)	NP_001458.1:p.Leu348=
NM_001164278.2:c.1108C>T (SLC37A4)	NP_001157750.1:p.Leu370=
NM_001164279.2:c.823C>T (SLC37A4)	NP_001157751.1:p.Leu275=
NM_001164280.2:c.1042C>T (SLC37A4)	NP_001157752.1:p.Leu348=
NM_001467.6:c.1042C>T (SLC37A4)	NP_001458.1:p.Leu348=
NM_001164277.2:c.1042C>T (SLC37A4) MANE Select	NP_001157749.1:p.Leu348=