Canonical Allele Identifier: CA229596092

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 2876423
• ClinVar RCV Id: RCV003617694
• dbSNP Id: rs988284774
• gnomAD v2: 11-118895941-C-T
• gnomAD v3: 11-119025231-C-T
• gnomAD v4: 11-119025231-C-T
• MyVariant Identifiers: chr11:g.118895941C>T (hg19) ; chr11:g.119025231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025231C>T , CM000673.2:g.119025231C>T	GRCh38
NC_000011.9:g.118895941C>T , CM000673.1:g.118895941C>T	GRCh37
NC_000011.8:g.118401151C>T	NCBI36
NG_013331.1:g.10675G>A , LRG_187:g.10675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1293G>A (SLC37A4)
ENST00000697845.1:n.2282G>A (SLC37A4)
ENST00000697846.1:n.1655G>A (SLC37A4)
ENST00000697847.1:n.1366G>A (SLC37A4)
ENST00000697849.1:n.3759G>A (SLC37A4)
ENST00000697850.1:n.1950G>A (SLC37A4)
ENST00000697851.1:n.2921G>A (SLC37A4)
ENST00000638186.1:n.1387G>A (SLC37A4)
ENST00000638360.1:n.1219G>A (SLC37A4)
ENST00000638925.1:n.1352G>A (SLC37A4)
ENST00000650539.1:n.1555G>A (SLC37A4)
ENST00000330775.9:c.1083G>A (SLC37A4)	ENSP00000476242.2:p.Leu361=
ENST00000357590.9:c.1149G>A (SLC37A4)	ENSP00000476176.2:p.Leu383=
ENST00000524428.5:n.1319G>A (SLC37A4)
ENST00000525039.5:n.1573G>A (SLC37A4)
ENST00000525102.5:n.1841G>A (SLC37A4)
ENST00000525372.5:n.1181G>A (SLC37A4)
ENST00000526275.5:n.1865G>A (SLC37A4)
ENST00000527992.5:n.1311G>A (SLC37A4)
ENST00000529510.5:n.771G>A (SLC37A4)
ENST00000530407.5:n.1233G>A (SLC37A4)
ENST00000532085.1:n.5101G>A (SLC37A4)
ENST00000533058.5:c.*182C>T (TRAPPC4)	ENSP00000432920.1:n.*182C>T
ENST00000538950.5:c.864G>A (SLC37A4)	ENSP00000475991.2:p.Leu288=
ENST00000545985.5:c.1083G>A (SLC37A4)	ENSP00000475241.2:p.Leu361=
NM_001164277.1:c.1083G>A , LRG_187t1:c.1083G>A (SLC37A4)	NP_001157749.1:p.Leu361=
NM_001164278.1:c.1149G>A (SLC37A4)	NP_001157750.1:p.Leu383=
NM_001164279.1:c.864G>A (SLC37A4)	NP_001157751.1:p.Leu288=
NM_001164280.1:c.1083G>A (SLC37A4)	NP_001157752.1:p.Leu361=
NM_001467.5:c.1083G>A (SLC37A4)	NP_001458.1:p.Leu361=
NM_001164278.2:c.1149G>A (SLC37A4)	NP_001157750.1:p.Leu383=
NM_001164279.2:c.864G>A (SLC37A4)	NP_001157751.1:p.Leu288=
NM_001164280.2:c.1083G>A (SLC37A4)	NP_001157752.1:p.Leu361=
NM_001467.6:c.1083G>A (SLC37A4)	NP_001458.1:p.Leu361=
NM_001164277.2:c.1083G>A (SLC37A4) MANE Select	NP_001157749.1:p.Leu361=