Canonical Allele Identifier: CA6311642

Gene: SLC37A4 TRAPPC4

Linked Data

• dbSNP Id: rs782443770
• ExAC: 11:118896027 C / T
• gnomAD v2: 11-118896027-C-T
• gnomAD v3: 11-119025317-C-T
• gnomAD v4: 11-119025317-C-T
• MyVariant Identifiers: chr11:g.118896027C>T (hg19) ; chr11:g.119025317C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025317C>T , CM000673.2:g.119025317C>T	GRCh38
NC_000011.9:g.118896027C>T , CM000673.1:g.118896027C>T	GRCh37
NC_000011.8:g.118401237C>T	NCBI36
NG_013331.1:g.10589G>A , LRG_187:g.10589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1207G>A (SLC37A4)
ENST00000697845.1:n.2196G>A (SLC37A4)
ENST00000697846.1:n.1569G>A (SLC37A4)
ENST00000697847.1:n.1280G>A (SLC37A4)
ENST00000697849.1:n.3673G>A (SLC37A4)
ENST00000697850.1:n.1864G>A (SLC37A4)
ENST00000697851.1:n.2835G>A (SLC37A4)
ENST00000638186.1:n.1301G>A (SLC37A4)
ENST00000638360.1:n.1133G>A (SLC37A4)
ENST00000638925.1:n.1266G>A (SLC37A4)
ENST00000650539.1:n.1469G>A (SLC37A4)
ENST00000330775.9:c.997G>A (SLC37A4)	ENSP00000476242.2:p.Val333Ile
ENST00000357590.9:c.1063G>A (SLC37A4)	ENSP00000476176.2:p.Val355Ile
ENST00000524428.5:n.1233G>A (SLC37A4)
ENST00000525039.5:n.1487G>A (SLC37A4)
ENST00000525102.5:n.1755G>A (SLC37A4)
ENST00000525372.5:n.1095G>A (SLC37A4)
ENST00000526275.5:n.1779G>A (SLC37A4)
ENST00000527992.5:n.1225G>A (SLC37A4)
ENST00000529510.5:n.685G>A (SLC37A4)
ENST00000530407.5:n.1147G>A (SLC37A4)
ENST00000532085.1:n.5015G>A (SLC37A4)
ENST00000533058.5:c.*268C>T (TRAPPC4)	ENSP00000432920.1:n.*268C>T
ENST00000538950.5:c.778G>A (SLC37A4)	ENSP00000475991.2:p.Val260Ile
ENST00000545985.5:c.997G>A (SLC37A4)	ENSP00000475241.2:p.Val333Ile
NM_001164277.1:c.997G>A , LRG_187t1:c.997G>A (SLC37A4)	NP_001157749.1:p.Val333Ile
NM_001164278.1:c.1063G>A (SLC37A4)	NP_001157750.1:p.Val355Ile
NM_001164279.1:c.778G>A (SLC37A4)	NP_001157751.1:p.Val260Ile
NM_001164280.1:c.997G>A (SLC37A4)	NP_001157752.1:p.Val333Ile
NM_001467.5:c.997G>A (SLC37A4)	NP_001458.1:p.Val333Ile
NM_001164278.2:c.1063G>A (SLC37A4)	NP_001157750.1:p.Val355Ile
NM_001164279.2:c.778G>A (SLC37A4)	NP_001157751.1:p.Val260Ile
NM_001164280.2:c.997G>A (SLC37A4)	NP_001157752.1:p.Val333Ile
NM_001467.6:c.997G>A (SLC37A4)	NP_001458.1:p.Val333Ile
NM_001164277.2:c.997G>A (SLC37A4) MANE Select	NP_001157749.1:p.Val333Ile