Canonical Allele Identifier: CA382894485

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 554698
• ClinVar RCV Id: RCV000670374
• dbSNP Id: rs1555190395
• gnomAD v4: 11-119025035-T-C
• MyVariant Identifiers: chr11:g.118895745T>C (hg19) ; chr11:g.119025035T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025035T>C , CM000673.2:g.119025035T>C	GRCh38
NC_000011.9:g.118895745T>C , CM000673.1:g.118895745T>C	GRCh37
NC_000011.8:g.118400955T>C	NCBI36
NG_013331.1:g.10871A>G , LRG_187:g.10871A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1375A>G (SLC37A4)
ENST00000697845.1:n.2364A>G (SLC37A4)
ENST00000697846.1:n.1737A>G (SLC37A4)
ENST00000697847.1:n.1448A>G (SLC37A4)
ENST00000697849.1:n.3841A>G (SLC37A4)
ENST00000697850.1:n.2032A>G (SLC37A4)
ENST00000697851.1:n.3003A>G (SLC37A4)
ENST00000638186.1:n.1469A>G (SLC37A4)
ENST00000638360.1:n.1301A>G (SLC37A4)
ENST00000638925.1:n.1434A>G (SLC37A4)
ENST00000650539.1:n.1637A>G (SLC37A4)
ENST00000330775.9:c.1165A>G (SLC37A4)	ENSP00000476242.2:p.Lys389Glu
ENST00000357590.9:c.1231A>G (SLC37A4)	ENSP00000476176.2:p.Lys411Glu
ENST00000524428.5:n.1401A>G (SLC37A4)
ENST00000525039.5:n.1655A>G (SLC37A4)
ENST00000525102.5:n.1923A>G (SLC37A4)
ENST00000525372.5:n.1263A>G (SLC37A4)
ENST00000526275.5:n.1947A>G (SLC37A4)
ENST00000527992.5:n.1393A>G (SLC37A4)
ENST00000530407.5:n.1315A>G (SLC37A4)
ENST00000532085.1:n.5183A>G (SLC37A4)
ENST00000533058.5:c.760T>C (TRAPPC4)	ENSP00000432920.1:p.Trp254Arg
ENST00000538950.5:c.946A>G (SLC37A4)	ENSP00000475991.2:p.Lys316Glu
ENST00000545985.5:c.1165A>G (SLC37A4)	ENSP00000475241.2:p.Lys389Glu
NM_001164277.1:c.1165A>G , LRG_187t1:c.1165A>G (SLC37A4)	NP_001157749.1:p.Lys389Glu
NM_001164278.1:c.1231A>G (SLC37A4)	NP_001157750.1:p.Lys411Glu
NM_001164279.1:c.946A>G (SLC37A4)	NP_001157751.1:p.Lys316Glu
NM_001164280.1:c.1165A>G (SLC37A4)	NP_001157752.1:p.Lys389Glu
NM_001467.5:c.1165A>G (SLC37A4)	NP_001458.1:p.Lys389Glu
NM_001164278.2:c.1231A>G (SLC37A4)	NP_001157750.1:p.Lys411Glu
NM_001164279.2:c.946A>G (SLC37A4)	NP_001157751.1:p.Lys316Glu
NM_001164280.2:c.1165A>G (SLC37A4)	NP_001157752.1:p.Lys389Glu
NM_001467.6:c.1165A>G (SLC37A4)	NP_001458.1:p.Lys389Glu
NM_001164277.2:c.1165A>G (SLC37A4) MANE Select	NP_001157749.1:p.Lys389Glu