Canonical Allele Identifier: CA382895883

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 3234897
• ClinVar RCV Id: RCV004547245
• MyVariant Identifiers: chr11:g.118895975C>A (hg19) ; chr11:g.119025265C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025265C>A , CM000673.2:g.119025265C>A	GRCh38
NC_000011.9:g.118895975C>A , CM000673.1:g.118895975C>A	GRCh37
NC_000011.8:g.118401185C>A	NCBI36
NG_013331.1:g.10641G>T , LRG_187:g.10641G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1259G>T (SLC37A4)
ENST00000697845.1:n.2248G>T (SLC37A4)
ENST00000697846.1:n.1621G>T (SLC37A4)
ENST00000697847.1:n.1332G>T (SLC37A4)
ENST00000697849.1:n.3725G>T (SLC37A4)
ENST00000697850.1:n.1916G>T (SLC37A4)
ENST00000697851.1:n.2887G>T (SLC37A4)
ENST00000638186.1:n.1353G>T (SLC37A4)
ENST00000638360.1:n.1185G>T (SLC37A4)
ENST00000638925.1:n.1318G>T (SLC37A4)
ENST00000650539.1:n.1521G>T (SLC37A4)
ENST00000330775.9:c.1049G>T (SLC37A4)	ENSP00000476242.2:p.Gly350Val
ENST00000357590.9:c.1115G>T (SLC37A4)	ENSP00000476176.2:p.Gly372Val
ENST00000524428.5:n.1285G>T (SLC37A4)
ENST00000525039.5:n.1539G>T (SLC37A4)
ENST00000525102.5:n.1807G>T (SLC37A4)
ENST00000525372.5:n.1147G>T (SLC37A4)
ENST00000526275.5:n.1831G>T (SLC37A4)
ENST00000527992.5:n.1277G>T (SLC37A4)
ENST00000529510.5:n.737G>T (SLC37A4)
ENST00000530407.5:n.1199G>T (SLC37A4)
ENST00000532085.1:n.5067G>T (SLC37A4)
ENST00000533058.5:c.*216C>A (TRAPPC4)	ENSP00000432920.1:n.*216C>A
ENST00000538950.5:c.830G>T (SLC37A4)	ENSP00000475991.2:p.Gly277Val
ENST00000545985.5:c.1049G>T (SLC37A4)	ENSP00000475241.2:p.Gly350Val
NM_001164277.1:c.1049G>T , LRG_187t1:c.1049G>T (SLC37A4)	NP_001157749.1:p.Gly350Val
NM_001164278.1:c.1115G>T (SLC37A4)	NP_001157750.1:p.Gly372Val
NM_001164279.1:c.830G>T (SLC37A4)	NP_001157751.1:p.Gly277Val
NM_001164280.1:c.1049G>T (SLC37A4)	NP_001157752.1:p.Gly350Val
NM_001467.5:c.1049G>T (SLC37A4)	NP_001458.1:p.Gly350Val
NM_001164278.2:c.1115G>T (SLC37A4)	NP_001157750.1:p.Gly372Val
NM_001164279.2:c.830G>T (SLC37A4)	NP_001157751.1:p.Gly277Val
NM_001164280.2:c.1049G>T (SLC37A4)	NP_001157752.1:p.Gly350Val
NM_001467.6:c.1049G>T (SLC37A4)	NP_001458.1:p.Gly350Val
NM_001164277.2:c.1049G>T (SLC37A4) MANE Select	NP_001157749.1:p.Gly350Val