Canonical Allele Identifier: CA477367273

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 1613267
• ClinVar RCV Id: RCV002158203
• dbSNP Id: rs2134627842
• gnomAD v4: 11-119025219-G-A
• MyVariant Identifiers: chr11:g.118895929G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025219G>A , CM000673.2:g.119025219G>A	GRCh38
NC_000011.9:g.118895929G>A , CM000673.1:g.118895929G>A	GRCh37
NC_000011.8:g.118401139G>A	NCBI36
NG_013331.1:g.10687C>T , LRG_187:g.10687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1305C>T (SLC37A4)
ENST00000697845.1:n.2294C>T (SLC37A4)
ENST00000697846.1:n.1667C>T (SLC37A4)
ENST00000697847.1:n.1378C>T (SLC37A4)
ENST00000697849.1:n.3771C>T (SLC37A4)
ENST00000697850.1:n.1962C>T (SLC37A4)
ENST00000697851.1:n.2933C>T (SLC37A4)
ENST00000638186.1:n.1399C>T (SLC37A4)
ENST00000638360.1:n.1231C>T (SLC37A4)
ENST00000638925.1:n.1364C>T (SLC37A4)
ENST00000650539.1:n.1567C>T (SLC37A4)
ENST00000330775.9:c.1095C>T (SLC37A4)	ENSP00000476242.2:p.Ser365=
ENST00000357590.9:c.1161C>T (SLC37A4)	ENSP00000476176.2:p.Ser387=
ENST00000524428.5:n.1331C>T (SLC37A4)
ENST00000525039.5:n.1585C>T (SLC37A4)
ENST00000525102.5:n.1853C>T (SLC37A4)
ENST00000525372.5:n.1193C>T (SLC37A4)
ENST00000526275.5:n.1877C>T (SLC37A4)
ENST00000527992.5:n.1323C>T (SLC37A4)
ENST00000529510.5:n.783C>T (SLC37A4)
ENST00000530407.5:n.1245C>T (SLC37A4)
ENST00000532085.1:n.5113C>T (SLC37A4)
ENST00000533058.5:c.*170G>A (TRAPPC4)	ENSP00000432920.1:n.*170G>A
ENST00000538950.5:c.876C>T (SLC37A4)	ENSP00000475991.2:p.Ser292=
ENST00000545985.5:c.1095C>T (SLC37A4)	ENSP00000475241.2:p.Ser365=
NM_001164277.1:c.1095C>T , LRG_187t1:c.1095C>T (SLC37A4)	NP_001157749.1:p.Ser365=
NM_001164278.1:c.1161C>T (SLC37A4)	NP_001157750.1:p.Ser387=
NM_001164279.1:c.876C>T (SLC37A4)	NP_001157751.1:p.Ser292=
NM_001164280.1:c.1095C>T (SLC37A4)	NP_001157752.1:p.Ser365=
NM_001467.5:c.1095C>T (SLC37A4)	NP_001458.1:p.Ser365=
NM_001164278.2:c.1161C>T (SLC37A4)	NP_001157750.1:p.Ser387=
NM_001164279.2:c.876C>T (SLC37A4)	NP_001157751.1:p.Ser292=
NM_001164280.2:c.1095C>T (SLC37A4)	NP_001157752.1:p.Ser365=
NM_001467.6:c.1095C>T (SLC37A4)	NP_001458.1:p.Ser365=
NM_001164277.2:c.1095C>T (SLC37A4) MANE Select	NP_001157749.1:p.Ser365=