Canonical Allele Identifier: CA6311633

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 841356
• ClinVar RCV Id: RCV001043558 ; RCV002481906
• dbSNP Id: rs782025581
• ExAC: 11:118895951 G / A
• gnomAD v2: 11-118895951-G-A
• gnomAD v3: 11-119025241-G-A
• gnomAD v4: 11-119025241-G-A
• MyVariant Identifiers: chr11:g.118895951G>A (hg19) ; chr11:g.119025241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025241G>A , CM000673.2:g.119025241G>A	GRCh38
NC_000011.9:g.118895951G>A , CM000673.1:g.118895951G>A	GRCh37
NC_000011.8:g.118401161G>A	NCBI36
NG_013331.1:g.10665C>T , LRG_187:g.10665C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1283C>T (SLC37A4)
ENST00000697845.1:n.2272C>T (SLC37A4)
ENST00000697846.1:n.1645C>T (SLC37A4)
ENST00000697847.1:n.1356C>T (SLC37A4)
ENST00000697849.1:n.3749C>T (SLC37A4)
ENST00000697850.1:n.1940C>T (SLC37A4)
ENST00000697851.1:n.2911C>T (SLC37A4)
ENST00000638186.1:n.1377C>T (SLC37A4)
ENST00000638360.1:n.1209C>T (SLC37A4)
ENST00000638925.1:n.1342C>T (SLC37A4)
ENST00000650539.1:n.1545C>T (SLC37A4)
ENST00000330775.9:c.1073C>T (SLC37A4)	ENSP00000476242.2:p.Pro358Leu
ENST00000357590.9:c.1139C>T (SLC37A4)	ENSP00000476176.2:p.Pro380Leu
ENST00000524428.5:n.1309C>T (SLC37A4)
ENST00000525039.5:n.1563C>T (SLC37A4)
ENST00000525102.5:n.1831C>T (SLC37A4)
ENST00000525372.5:n.1171C>T (SLC37A4)
ENST00000526275.5:n.1855C>T (SLC37A4)
ENST00000527992.5:n.1301C>T (SLC37A4)
ENST00000529510.5:n.761C>T (SLC37A4)
ENST00000530407.5:n.1223C>T (SLC37A4)
ENST00000532085.1:n.5091C>T (SLC37A4)
ENST00000533058.5:c.*192G>A (TRAPPC4)	ENSP00000432920.1:n.*192G>A
ENST00000538950.5:c.854C>T (SLC37A4)	ENSP00000475991.2:p.Pro285Leu
ENST00000545985.5:c.1073C>T (SLC37A4)	ENSP00000475241.2:p.Pro358Leu
NM_001164277.1:c.1073C>T , LRG_187t1:c.1073C>T (SLC37A4)	NP_001157749.1:p.Pro358Leu
NM_001164278.1:c.1139C>T (SLC37A4)	NP_001157750.1:p.Pro380Leu
NM_001164279.1:c.854C>T (SLC37A4)	NP_001157751.1:p.Pro285Leu
NM_001164280.1:c.1073C>T (SLC37A4)	NP_001157752.1:p.Pro358Leu
NM_001467.5:c.1073C>T (SLC37A4)	NP_001458.1:p.Pro358Leu
NM_001164278.2:c.1139C>T (SLC37A4)	NP_001157750.1:p.Pro380Leu
NM_001164279.2:c.854C>T (SLC37A4)	NP_001157751.1:p.Pro285Leu
NM_001164280.2:c.1073C>T (SLC37A4)	NP_001157752.1:p.Pro358Leu
NM_001467.6:c.1073C>T (SLC37A4)	NP_001458.1:p.Pro358Leu
NM_001164277.2:c.1073C>T (SLC37A4) MANE Select	NP_001157749.1:p.Pro358Leu