Canonical Allele Identifier: CA219282

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 68269
• ClinVar RCV Id: RCV000059119
• dbSNP Id: rs193302901
• gnomAD v2: 11-118895906-G-T
• gnomAD v4: 11-119025196-G-T
• MyVariant Identifiers: chr11:g.118895906G>T (hg19) ; chr11:g.119025196G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025196G>T , CM000673.2:g.119025196G>T	GRCh38
NC_000011.9:g.118895906G>T , CM000673.1:g.118895906G>T	GRCh37
NC_000011.8:g.118401116G>T	NCBI36
NG_013331.1:g.10710C>A , LRG_187:g.10710C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1328C>A (SLC37A4)
ENST00000697845.1:n.2317C>A (SLC37A4)
ENST00000697846.1:n.1690C>A (SLC37A4)
ENST00000697847.1:n.1401C>A (SLC37A4)
ENST00000697849.1:n.3794C>A (SLC37A4)
ENST00000697850.1:n.1985C>A (SLC37A4)
ENST00000697851.1:n.2956C>A (SLC37A4)
ENST00000638186.1:n.1422C>A (SLC37A4)
ENST00000638360.1:n.1254C>A (SLC37A4)
ENST00000638925.1:n.1387C>A (SLC37A4)
ENST00000650539.1:n.1590C>A (SLC37A4)
ENST00000330775.9:c.1118C>A (SLC37A4)	ENSP00000476242.2:p.Ala373Asp
ENST00000357590.9:c.1184C>A (SLC37A4)	ENSP00000476176.2:p.Ala395Asp
ENST00000524428.5:n.1354C>A (SLC37A4)
ENST00000525039.5:n.1608C>A (SLC37A4)
ENST00000525102.5:n.1876C>A (SLC37A4)
ENST00000525372.5:n.1216C>A (SLC37A4)
ENST00000526275.5:n.1900C>A (SLC37A4)
ENST00000527992.5:n.1346C>A (SLC37A4)
ENST00000529510.5:n.806C>A (SLC37A4)
ENST00000530407.5:n.1268C>A (SLC37A4)
ENST00000532085.1:n.5136C>A (SLC37A4)
ENST00000533058.5:c.*147G>T (TRAPPC4)	ENSP00000432920.1:n.*147G>T
ENST00000538950.5:c.899C>A (SLC37A4)	ENSP00000475991.2:p.Ala300Asp
ENST00000545985.5:c.1118C>A (SLC37A4)	ENSP00000475241.2:p.Ala373Asp
NM_001164277.1:c.1118C>A , LRG_187t1:c.1118C>A (SLC37A4)	NP_001157749.1:p.Ala373Asp
NM_001164278.1:c.1184C>A (SLC37A4)	NP_001157750.1:p.Ala395Asp
NM_001164279.1:c.899C>A (SLC37A4)	NP_001157751.1:p.Ala300Asp
NM_001164280.1:c.1118C>A (SLC37A4)	NP_001157752.1:p.Ala373Asp
NM_001467.5:c.1118C>A (SLC37A4)	NP_001458.1:p.Ala373Asp
NM_001164278.2:c.1184C>A (SLC37A4)	NP_001157750.1:p.Ala395Asp
NM_001164279.2:c.899C>A (SLC37A4)	NP_001157751.1:p.Ala300Asp
NM_001164280.2:c.1118C>A (SLC37A4)	NP_001157752.1:p.Ala373Asp
NM_001467.6:c.1118C>A (SLC37A4)	NP_001458.1:p.Ala373Asp
NM_001164277.2:c.1118C>A (SLC37A4) MANE Select	NP_001157749.1:p.Ala373Asp