Canonical Allele Identifier: CA6311634

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 2074546
• ClinVar RCV Id: RCV002976289
• dbSNP Id: rs533783569
• ExAC: 11:118895952 G / A
• gnomAD v2: 11-118895952-G-A
• gnomAD v3: 11-119025242-G-A
• gnomAD v4: 11-119025242-G-A
• MyVariant Identifiers: chr11:g.118895952G>A (hg19) ; chr11:g.119025242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025242G>A , CM000673.2:g.119025242G>A	GRCh38
NC_000011.9:g.118895952G>A , CM000673.1:g.118895952G>A	GRCh37
NC_000011.8:g.118401162G>A	NCBI36
NG_013331.1:g.10664C>T , LRG_187:g.10664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1282C>T (SLC37A4)
ENST00000697845.1:n.2271C>T (SLC37A4)
ENST00000697846.1:n.1644C>T (SLC37A4)
ENST00000697847.1:n.1355C>T (SLC37A4)
ENST00000697849.1:n.3748C>T (SLC37A4)
ENST00000697850.1:n.1939C>T (SLC37A4)
ENST00000697851.1:n.2910C>T (SLC37A4)
ENST00000638186.1:n.1376C>T (SLC37A4)
ENST00000638360.1:n.1208C>T (SLC37A4)
ENST00000638925.1:n.1341C>T (SLC37A4)
ENST00000650539.1:n.1544C>T (SLC37A4)
ENST00000330775.9:c.1072C>T (SLC37A4)	ENSP00000476242.2:p.Pro358Ser
ENST00000357590.9:c.1138C>T (SLC37A4)	ENSP00000476176.2:p.Pro380Ser
ENST00000524428.5:n.1308C>T (SLC37A4)
ENST00000525039.5:n.1562C>T (SLC37A4)
ENST00000525102.5:n.1830C>T (SLC37A4)
ENST00000525372.5:n.1170C>T (SLC37A4)
ENST00000526275.5:n.1854C>T (SLC37A4)
ENST00000527992.5:n.1300C>T (SLC37A4)
ENST00000529510.5:n.760C>T (SLC37A4)
ENST00000530407.5:n.1222C>T (SLC37A4)
ENST00000532085.1:n.5090C>T (SLC37A4)
ENST00000533058.5:c.*193G>A (TRAPPC4)	ENSP00000432920.1:n.*193G>A
ENST00000538950.5:c.853C>T (SLC37A4)	ENSP00000475991.2:p.Pro285Ser
ENST00000545985.5:c.1072C>T (SLC37A4)	ENSP00000475241.2:p.Pro358Ser
NM_001164277.1:c.1072C>T , LRG_187t1:c.1072C>T (SLC37A4)	NP_001157749.1:p.Pro358Ser
NM_001164278.1:c.1138C>T (SLC37A4)	NP_001157750.1:p.Pro380Ser
NM_001164279.1:c.853C>T (SLC37A4)	NP_001157751.1:p.Pro285Ser
NM_001164280.1:c.1072C>T (SLC37A4)	NP_001157752.1:p.Pro358Ser
NM_001467.5:c.1072C>T (SLC37A4)	NP_001458.1:p.Pro358Ser
NM_001164278.2:c.1138C>T (SLC37A4)	NP_001157750.1:p.Pro380Ser
NM_001164279.2:c.853C>T (SLC37A4)	NP_001157751.1:p.Pro285Ser
NM_001164280.2:c.1072C>T (SLC37A4)	NP_001157752.1:p.Pro358Ser
NM_001467.6:c.1072C>T (SLC37A4)	NP_001458.1:p.Pro358Ser
NM_001164277.2:c.1072C>T (SLC37A4) MANE Select	NP_001157749.1:p.Pro358Ser