Canonical Allele Identifier: CA477367466

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 558403
• ClinVar RCV Id: RCV000674667
• dbSNP Id: rs1555190553
• MyVariant Identifiers: chr11:g.118896031G>A (hg19) ; chr11:g.119025321G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025321G>A , CM000673.2:g.119025321G>A	GRCh38
NC_000011.9:g.118896031G>A , CM000673.1:g.118896031G>A	GRCh37
NC_000011.8:g.118401241G>A	NCBI36
NG_013331.1:g.10585C>T , LRG_187:g.10585C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1203C>T (SLC37A4)
ENST00000697845.1:n.2192C>T (SLC37A4)
ENST00000697846.1:n.1565C>T (SLC37A4)
ENST00000697847.1:n.1276C>T (SLC37A4)
ENST00000697849.1:n.3669C>T (SLC37A4)
ENST00000697850.1:n.1860C>T (SLC37A4)
ENST00000697851.1:n.2831C>T (SLC37A4)
ENST00000638186.1:n.1297C>T (SLC37A4)
ENST00000638360.1:n.1129C>T (SLC37A4)
ENST00000638925.1:n.1262C>T (SLC37A4)
ENST00000650539.1:n.1465C>T (SLC37A4)
ENST00000330775.9:c.993C>T (SLC37A4)	ENSP00000476242.2:p.Ile331=
ENST00000357590.9:c.1059C>T (SLC37A4)	ENSP00000476176.2:p.Ile353=
ENST00000524428.5:n.1229C>T (SLC37A4)
ENST00000525039.5:n.1483C>T (SLC37A4)
ENST00000525102.5:n.1751C>T (SLC37A4)
ENST00000525372.5:n.1091C>T (SLC37A4)
ENST00000526275.5:n.1775C>T (SLC37A4)
ENST00000527992.5:n.1221C>T (SLC37A4)
ENST00000529510.5:n.681C>T (SLC37A4)
ENST00000530407.5:n.1143C>T (SLC37A4)
ENST00000532085.1:n.5011C>T (SLC37A4)
ENST00000533058.5:c.*272G>A (TRAPPC4)	ENSP00000432920.1:n.*272G>A
ENST00000538950.5:c.774C>T (SLC37A4)	ENSP00000475991.2:p.Ile258=
ENST00000545985.5:c.993C>T (SLC37A4)	ENSP00000475241.2:p.Ile331=
NM_001164277.1:c.993C>T , LRG_187t1:c.993C>T (SLC37A4)	NP_001157749.1:p.Ile331=
NM_001164278.1:c.1059C>T (SLC37A4)	NP_001157750.1:p.Ile353=
NM_001164279.1:c.774C>T (SLC37A4)	NP_001157751.1:p.Ile258=
NM_001164280.1:c.993C>T (SLC37A4)	NP_001157752.1:p.Ile331=
NM_001467.5:c.993C>T (SLC37A4)	NP_001458.1:p.Ile331=
NM_001164278.2:c.1059C>T (SLC37A4)	NP_001157750.1:p.Ile353=
NM_001164279.2:c.774C>T (SLC37A4)	NP_001157751.1:p.Ile258=
NM_001164280.2:c.993C>T (SLC37A4)	NP_001157752.1:p.Ile331=
NM_001467.6:c.993C>T (SLC37A4)	NP_001458.1:p.Ile331=
NM_001164277.2:c.993C>T (SLC37A4) MANE Select	NP_001157749.1:p.Ile331=