Canonical Allele Identifier: CA382894352

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 1076442
• ClinVar RCV Id: RCV001390356
• dbSNP Id: rs2134626765
• MyVariant Identifiers: chr11:g.118895732C>T (hg19) ; chr11:g.119025022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025022C>T , CM000673.2:g.119025022C>T	GRCh38
NC_000011.9:g.118895732C>T , CM000673.1:g.118895732C>T	GRCh37
NC_000011.8:g.118400942C>T	NCBI36
NG_013331.1:g.10884G>A , LRG_187:g.10884G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1388G>A (SLC37A4)
ENST00000697845.1:n.2377G>A (SLC37A4)
ENST00000697846.1:n.1750G>A (SLC37A4)
ENST00000697847.1:n.1461G>A (SLC37A4)
ENST00000697849.1:n.3854G>A (SLC37A4)
ENST00000697850.1:n.2045G>A (SLC37A4)
ENST00000697851.1:n.3016G>A (SLC37A4)
ENST00000638186.1:n.1482G>A (SLC37A4)
ENST00000638360.1:n.1314G>A (SLC37A4)
ENST00000638925.1:n.1447G>A (SLC37A4)
ENST00000650539.1:n.1650G>A (SLC37A4)
ENST00000330775.9:c.1178G>A (SLC37A4)	ENSP00000476242.2:p.Trp393Ter
ENST00000357590.9:c.1244G>A (SLC37A4)	ENSP00000476176.2:p.Trp415Ter
ENST00000524428.5:n.1414G>A (SLC37A4)
ENST00000525039.5:n.1668G>A (SLC37A4)
ENST00000525102.5:n.1936G>A (SLC37A4)
ENST00000525372.5:n.1276G>A (SLC37A4)
ENST00000526275.5:n.1960G>A (SLC37A4)
ENST00000527992.5:n.1406G>A (SLC37A4)
ENST00000530407.5:n.1328G>A (SLC37A4)
ENST00000532085.1:n.5196G>A (SLC37A4)
ENST00000533058.5:c.747C>T (TRAPPC4)	ENSP00000432920.1:p.Ser249=
ENST00000538950.5:c.959G>A (SLC37A4)	ENSP00000475991.2:p.Trp320Ter
ENST00000545985.5:c.1178G>A (SLC37A4)	ENSP00000475241.2:p.Trp393Ter
NM_001164277.1:c.1178G>A , LRG_187t1:c.1178G>A (SLC37A4)	NP_001157749.1:p.Trp393Ter
NM_001164278.1:c.1244G>A (SLC37A4)	NP_001157750.1:p.Trp415Ter
NM_001164279.1:c.959G>A (SLC37A4)	NP_001157751.1:p.Trp320Ter
NM_001164280.1:c.1178G>A (SLC37A4)	NP_001157752.1:p.Trp393Ter
NM_001467.5:c.1178G>A (SLC37A4)	NP_001458.1:p.Trp393Ter
NM_001164278.2:c.1244G>A (SLC37A4)	NP_001157750.1:p.Trp415Ter
NM_001164279.2:c.959G>A (SLC37A4)	NP_001157751.1:p.Trp320Ter
NM_001164280.2:c.1178G>A (SLC37A4)	NP_001157752.1:p.Trp393Ter
NM_001467.6:c.1178G>A (SLC37A4)	NP_001458.1:p.Trp393Ter
NM_001164277.2:c.1178G>A (SLC37A4) MANE Select	NP_001157749.1:p.Trp393Ter