Canonical Allele Identifier: CA6311628

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 1514493
• ClinVar RCV Id: RCV002048277
• dbSNP Id: rs782630676
• ExAC: 11:118895900 C / A
• gnomAD v2: 11-118895900-C-A
• gnomAD v4: 11-119025190-C-A
• MyVariant Identifiers: chr11:g.118895900C>A (hg19) ; chr11:g.119025190C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025190C>A , CM000673.2:g.119025190C>A	GRCh38
NC_000011.9:g.118895900C>A , CM000673.1:g.118895900C>A	GRCh37
NC_000011.8:g.118401110C>A	NCBI36
NG_013331.1:g.10716G>T , LRG_187:g.10716G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1333+1G>T (SLC37A4)
ENST00000697845.1:n.2322+1G>T (SLC37A4)
ENST00000697846.1:n.1695+1G>T (SLC37A4)
ENST00000697847.1:n.1406+1G>T (SLC37A4)
ENST00000697849.1:n.3799+1G>T (SLC37A4)
ENST00000697850.1:n.1990+1G>T (SLC37A4)
ENST00000697851.1:n.2961+1G>T (SLC37A4)
ENST00000638186.1:n.1427+1G>T (SLC37A4)
ENST00000638360.1:n.1259+1G>T (SLC37A4)
ENST00000638925.1:n.1392+1G>T (SLC37A4)
ENST00000650539.1:n.1595+1G>T (SLC37A4)
ENST00000330775.9:c.1123+1G>T (SLC37A4)	ENSP00000476242.2:n.1123+1G>T
ENST00000357590.9:c.1189+1G>T (SLC37A4)	ENSP00000476176.2:n.1189+1G>T
ENST00000524428.5:n.1359+1G>T (SLC37A4)
ENST00000525039.5:n.1613+1G>T (SLC37A4)
ENST00000525102.5:n.1881+1G>T (SLC37A4)
ENST00000525372.5:n.1221+1G>T (SLC37A4)
ENST00000526275.5:n.1905+1G>T (SLC37A4)
ENST00000527992.5:n.1351+1G>T (SLC37A4)
ENST00000529510.5:n.812G>T (SLC37A4)
ENST00000530407.5:n.1273+1G>T (SLC37A4)
ENST00000532085.1:n.5141+1G>T (SLC37A4)
ENST00000533058.5:c.*141C>A (TRAPPC4)	ENSP00000432920.1:n.*141C>A
ENST00000538950.5:c.904+1G>T (SLC37A4)	ENSP00000475991.2:n.904+1G>T
ENST00000545985.5:c.1123+1G>T (SLC37A4)	ENSP00000475241.2:n.1123+1G>T
NM_001164277.1:c.1123+1G>T , LRG_187t1:c.1123+1G>T (SLC37A4)	NP_001157749.1:n.1123+1G>T
NM_001164278.1:c.1189+1G>T (SLC37A4)	NP_001157750.1:n.1189+1G>T
NM_001164279.1:c.904+1G>T (SLC37A4)	NP_001157751.1:n.904+1G>T
NM_001164280.1:c.1123+1G>T (SLC37A4)	NP_001157752.1:n.1123+1G>T
NM_001467.5:c.1123+1G>T (SLC37A4)	NP_001458.1:n.1123+1G>T
NM_001164278.2:c.1189+1G>T (SLC37A4)	NP_001157750.1:n.1189+1G>T
NM_001164279.2:c.904+1G>T (SLC37A4)	NP_001157751.1:n.904+1G>T
NM_001164280.2:c.1123+1G>T (SLC37A4)	NP_001157752.1:n.1123+1G>T
NM_001467.6:c.1123+1G>T (SLC37A4)	NP_001458.1:n.1123+1G>T
NM_001164277.2:c.1123+1G>T (SLC37A4) MANE Select	NP_001157749.1:n.1123+1G>T