Canonical Allele Identifier: CA382894336

Gene: SLC37A4 TRAPPC4

Linked Data

• MyVariant Identifiers: chr11:g.118895731C>A (hg19) ; chr11:g.119025021C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025021C>A , CM000673.2:g.119025021C>A	GRCh38
NC_000011.9:g.118895731C>A , CM000673.1:g.118895731C>A	GRCh37
NC_000011.8:g.118400941C>A	NCBI36
NG_013331.1:g.10885G>T , LRG_187:g.10885G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529510.6:n.1389G>T (SLC37A4)
ENST00000697845.1:n.2378G>T (SLC37A4)
ENST00000697846.1:n.1751G>T (SLC37A4)
ENST00000697847.1:n.1462G>T (SLC37A4)
ENST00000697849.1:n.3855G>T (SLC37A4)
ENST00000697850.1:n.2046G>T (SLC37A4)
ENST00000697851.1:n.3017G>T (SLC37A4)
ENST00000638186.1:n.1483G>T (SLC37A4)
ENST00000638360.1:n.1315G>T (SLC37A4)
ENST00000638925.1:n.1448G>T (SLC37A4)
ENST00000650539.1:n.1651G>T (SLC37A4)
ENST00000330775.9:c.1179G>T (SLC37A4)	ENSP00000476242.2:p.Trp393Cys
ENST00000357590.9:c.1245G>T (SLC37A4)	ENSP00000476176.2:p.Trp415Cys
ENST00000524428.5:n.1415G>T (SLC37A4)
ENST00000525039.5:n.1669G>T (SLC37A4)
ENST00000525102.5:n.1937G>T (SLC37A4)
ENST00000525372.5:n.1277G>T (SLC37A4)
ENST00000526275.5:n.1961G>T (SLC37A4)
ENST00000527992.5:n.1407G>T (SLC37A4)
ENST00000530407.5:n.1329G>T (SLC37A4)
ENST00000532085.1:n.5197G>T (SLC37A4)
ENST00000533058.5:c.746C>A (TRAPPC4)	ENSP00000432920.1:p.Ser249Tyr
ENST00000538950.5:c.960G>T (SLC37A4)	ENSP00000475991.2:p.Trp320Cys
ENST00000545985.5:c.1179G>T (SLC37A4)	ENSP00000475241.2:p.Trp393Cys
NM_001164277.1:c.1179G>T , LRG_187t1:c.1179G>T (SLC37A4)	NP_001157749.1:p.Trp393Cys
NM_001164278.1:c.1245G>T (SLC37A4)	NP_001157750.1:p.Trp415Cys
NM_001164279.1:c.960G>T (SLC37A4)	NP_001157751.1:p.Trp320Cys
NM_001164280.1:c.1179G>T (SLC37A4)	NP_001157752.1:p.Trp393Cys
NM_001467.5:c.1179G>T (SLC37A4)	NP_001458.1:p.Trp393Cys
NM_001164278.2:c.1245G>T (SLC37A4)	NP_001157750.1:p.Trp415Cys
NM_001164279.2:c.960G>T (SLC37A4)	NP_001157751.1:p.Trp320Cys
NM_001164280.2:c.1179G>T (SLC37A4)	NP_001157752.1:p.Trp393Cys
NM_001467.6:c.1179G>T (SLC37A4)	NP_001458.1:p.Trp393Cys
NM_001164277.2:c.1179G>T (SLC37A4) MANE Select	NP_001157749.1:p.Trp393Cys