Canonical Allele Identifier: CA229595426

Gene: SLC37A4 TRAPPC4

Linked Data

• dbSNP Id: rs866413090
• gnomAD v4: 11-119024870-A-G
• MyVariant Identifiers: chr11:g.118895580A>G (hg19) ; chr11:g.119024870A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119024870A>G , CM000673.2:g.119024870A>G	GRCh38
NC_000011.9:g.118895580A>G , CM000673.1:g.118895580A>G	GRCh37
NC_000011.8:g.118400790A>G	NCBI36
NG_013331.1:g.11036T>C , LRG_187:g.11036T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1540T>C (SLC37A4)
ENST00000697845.1:n.2529T>C (SLC37A4)
ENST00000697846.1:n.1902T>C (SLC37A4)
ENST00000697847.1:n.1613T>C (SLC37A4)
ENST00000697849.1:n.4006T>C (SLC37A4)
ENST00000697850.1:n.2197T>C (SLC37A4)
ENST00000697851.1:n.3168T>C (SLC37A4)
ENST00000638186.1:n.1634T>C (SLC37A4)
ENST00000638360.1:n.1466T>C (SLC37A4)
ENST00000638925.1:n.1599T>C (SLC37A4)
ENST00000650539.1:n.1802T>C (SLC37A4)
ENST00000330775.9:c.*40T>C (SLC37A4)	ENSP00000476242.2:n.*40T>C
ENST00000357590.9:c.*40T>C (SLC37A4)	ENSP00000476176.2:n.*40T>C
ENST00000525102.5:n.2088T>C (SLC37A4)
ENST00000526275.5:n.2112T>C (SLC37A4)
ENST00000527992.5:n.1558T>C (SLC37A4)
ENST00000532085.1:n.5348T>C (SLC37A4)
ENST00000533058.5:c.595A>G (TRAPPC4)	ENSP00000432920.1:p.Lys199Glu
ENST00000538950.5:c.*40T>C (SLC37A4)	ENSP00000475991.2:n.*40T>C
ENST00000545985.5:c.*40T>C (SLC37A4)	ENSP00000475241.2:n.*40T>C
NM_001164277.1:c.*40T>C , LRG_187t1:c.*40T>C (SLC37A4)	NP_001157749.1:n.*40T>C
NM_001164278.1:c.*40T>C (SLC37A4)	NP_001157750.1:n.*40T>C
NM_001164279.1:c.*40T>C (SLC37A4)	NP_001157751.1:n.*40T>C
NM_001164280.1:c.*40T>C (SLC37A4)	NP_001157752.1:n.*40T>C
NM_001467.5:c.*40T>C (SLC37A4)	NP_001458.1:n.*40T>C
NM_001164278.2:c.*40T>C (SLC37A4)	NP_001157750.1:n.*40T>C
NM_001164279.2:c.*40T>C (SLC37A4)	NP_001157751.1:n.*40T>C
NM_001164280.2:c.*40T>C (SLC37A4)	NP_001157752.1:n.*40T>C
NM_001467.6:c.*40T>C (SLC37A4)	NP_001458.1:n.*40T>C
NM_001164277.2:c.*40T>C (SLC37A4) MANE Select	NP_001157749.1:n.*40T>C