Canonical Allele Identifier: CA203733

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 199062
• ClinVar RCV Id: RCV000180561 ; RCV000559346 ; RCV002408783 ; RCV003937641
• dbSNP Id: rs547488738
• ExAC: 11:118895957 C / G
• gnomAD v2: 11-118895957-C-G
• gnomAD v3: 11-119025247-C-G
• gnomAD v4: 11-119025247-C-G
• COSMIC: COSM5980207
• MyVariant Identifiers: chr11:g.118895957C>G (hg19) ; chr11:g.119025247C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025247C>G , CM000673.2:g.119025247C>G	GRCh38
NC_000011.9:g.118895957C>G , CM000673.1:g.118895957C>G	GRCh37
NC_000011.8:g.118401167C>G	NCBI36
NG_013331.1:g.10659G>C , LRG_187:g.10659G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1277G>C (SLC37A4)
ENST00000697845.1:n.2266G>C (SLC37A4)
ENST00000697846.1:n.1639G>C (SLC37A4)
ENST00000697847.1:n.1350G>C (SLC37A4)
ENST00000697849.1:n.3743G>C (SLC37A4)
ENST00000697850.1:n.1934G>C (SLC37A4)
ENST00000697851.1:n.2905G>C (SLC37A4)
ENST00000638186.1:n.1371G>C (SLC37A4)
ENST00000638360.1:n.1203G>C (SLC37A4)
ENST00000638925.1:n.1336G>C (SLC37A4)
ENST00000650539.1:n.1539G>C (SLC37A4)
ENST00000330775.9:c.1067G>C (SLC37A4)	ENSP00000476242.2:p.Ser356Thr
ENST00000357590.9:c.1133G>C (SLC37A4)	ENSP00000476176.2:p.Ser378Thr
ENST00000524428.5:n.1303G>C (SLC37A4)
ENST00000525039.5:n.1557G>C (SLC37A4)
ENST00000525102.5:n.1825G>C (SLC37A4)
ENST00000525372.5:n.1165G>C (SLC37A4)
ENST00000526275.5:n.1849G>C (SLC37A4)
ENST00000527992.5:n.1295G>C (SLC37A4)
ENST00000529510.5:n.755G>C (SLC37A4)
ENST00000530407.5:n.1217G>C (SLC37A4)
ENST00000532085.1:n.5085G>C (SLC37A4)
ENST00000533058.5:c.*198C>G (TRAPPC4)	ENSP00000432920.1:n.*198C>G
ENST00000538950.5:c.848G>C (SLC37A4)	ENSP00000475991.2:p.Ser283Thr
ENST00000545985.5:c.1067G>C (SLC37A4)	ENSP00000475241.2:p.Ser356Thr
NM_001164277.1:c.1067G>C , LRG_187t1:c.1067G>C (SLC37A4)	NP_001157749.1:p.Ser356Thr
NM_001164278.1:c.1133G>C (SLC37A4)	NP_001157750.1:p.Ser378Thr
NM_001164279.1:c.848G>C (SLC37A4)	NP_001157751.1:p.Ser283Thr
NM_001164280.1:c.1067G>C (SLC37A4)	NP_001157752.1:p.Ser356Thr
NM_001467.5:c.1067G>C (SLC37A4)	NP_001458.1:p.Ser356Thr
NM_001164278.2:c.1133G>C (SLC37A4)	NP_001157750.1:p.Ser378Thr
NM_001164279.2:c.848G>C (SLC37A4)	NP_001157751.1:p.Ser283Thr
NM_001164280.2:c.1067G>C (SLC37A4)	NP_001157752.1:p.Ser356Thr
NM_001467.6:c.1067G>C (SLC37A4)	NP_001458.1:p.Ser356Thr
NM_001164277.2:c.1067G>C (SLC37A4) MANE Select	NP_001157749.1:p.Ser356Thr