Canonical Allele Identifier: CA382894581

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 1107328
• ClinVar RCV Id: RCV001432425
• dbSNP Id: rs1943511456
• gnomAD v4: 11-119025042-G-A
• MyVariant Identifiers: chr11:g.118895752G>A (hg19) ; chr11:g.119025042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025042G>A , CM000673.2:g.119025042G>A	GRCh38
NC_000011.9:g.118895752G>A , CM000673.1:g.118895752G>A	GRCh37
NC_000011.8:g.118400962G>A	NCBI36
NG_013331.1:g.10864C>T , LRG_187:g.10864C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1368C>T (SLC37A4)
ENST00000697845.1:n.2357C>T (SLC37A4)
ENST00000697846.1:n.1730C>T (SLC37A4)
ENST00000697847.1:n.1441C>T (SLC37A4)
ENST00000697849.1:n.3834C>T (SLC37A4)
ENST00000697850.1:n.2025C>T (SLC37A4)
ENST00000697851.1:n.2996C>T (SLC37A4)
ENST00000638186.1:n.1462C>T (SLC37A4)
ENST00000638360.1:n.1294C>T (SLC37A4)
ENST00000638925.1:n.1427C>T (SLC37A4)
ENST00000650539.1:n.1630C>T (SLC37A4)
ENST00000330775.9:c.1158C>T (SLC37A4)	ENSP00000476242.2:p.Thr386=
ENST00000357590.9:c.1224C>T (SLC37A4)	ENSP00000476176.2:p.Thr408=
ENST00000524428.5:n.1394C>T (SLC37A4)
ENST00000525039.5:n.1648C>T (SLC37A4)
ENST00000525102.5:n.1916C>T (SLC37A4)
ENST00000525372.5:n.1256C>T (SLC37A4)
ENST00000526275.5:n.1940C>T (SLC37A4)
ENST00000527992.5:n.1386C>T (SLC37A4)
ENST00000530407.5:n.1308C>T (SLC37A4)
ENST00000532085.1:n.5176C>T (SLC37A4)
ENST00000533058.5:c.767G>A (TRAPPC4)	ENSP00000432920.1:p.Trp256Ter
ENST00000538950.5:c.939C>T (SLC37A4)	ENSP00000475991.2:p.Thr313=
ENST00000545985.5:c.1158C>T (SLC37A4)	ENSP00000475241.2:p.Thr386=
NM_001164277.1:c.1158C>T , LRG_187t1:c.1158C>T (SLC37A4)	NP_001157749.1:p.Thr386=
NM_001164278.1:c.1224C>T (SLC37A4)	NP_001157750.1:p.Thr408=
NM_001164279.1:c.939C>T (SLC37A4)	NP_001157751.1:p.Thr313=
NM_001164280.1:c.1158C>T (SLC37A4)	NP_001157752.1:p.Thr386=
NM_001467.5:c.1158C>T (SLC37A4)	NP_001458.1:p.Thr386=
NM_001164278.2:c.1224C>T (SLC37A4)	NP_001157750.1:p.Thr408=
NM_001164279.2:c.939C>T (SLC37A4)	NP_001157751.1:p.Thr313=
NM_001164280.2:c.1158C>T (SLC37A4)	NP_001157752.1:p.Thr386=
NM_001467.6:c.1158C>T (SLC37A4)	NP_001458.1:p.Thr386=
NM_001164277.2:c.1158C>T (SLC37A4) MANE Select	NP_001157749.1:p.Thr386=