Canonical Allele Identifier: CA382895049

Gene: SLC37A4 TRAPPC4

Linked Data

• ClinVar Variation Id: 2084912
• ClinVar RCV Id: RCV003011384
• dbSNP Id: rs1943520706
• gnomAD v4: 11-119025193-T-C
• MyVariant Identifiers: chr11:g.118895903T>C (hg19) ; chr11:g.119025193T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119025193T>C , CM000673.2:g.119025193T>C	GRCh38
NC_000011.9:g.118895903T>C , CM000673.1:g.118895903T>C	GRCh37
NC_000011.8:g.118401113T>C	NCBI36
NG_013331.1:g.10713A>G , LRG_187:g.10713A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000529510.6:n.1331A>G (SLC37A4)
ENST00000697845.1:n.2320A>G (SLC37A4)
ENST00000697846.1:n.1693A>G (SLC37A4)
ENST00000697847.1:n.1404A>G (SLC37A4)
ENST00000697849.1:n.3797A>G (SLC37A4)
ENST00000697850.1:n.1988A>G (SLC37A4)
ENST00000697851.1:n.2959A>G (SLC37A4)
ENST00000638186.1:n.1425A>G (SLC37A4)
ENST00000638360.1:n.1257A>G (SLC37A4)
ENST00000638925.1:n.1390A>G (SLC37A4)
ENST00000650539.1:n.1593A>G (SLC37A4)
ENST00000330775.9:c.1121A>G (SLC37A4)	ENSP00000476242.2:p.Asn374Ser
ENST00000357590.9:c.1187A>G (SLC37A4)	ENSP00000476176.2:p.Asn396Ser
ENST00000524428.5:n.1357A>G (SLC37A4)
ENST00000525039.5:n.1611A>G (SLC37A4)
ENST00000525102.5:n.1879A>G (SLC37A4)
ENST00000525372.5:n.1219A>G (SLC37A4)
ENST00000526275.5:n.1903A>G (SLC37A4)
ENST00000527992.5:n.1349A>G (SLC37A4)
ENST00000529510.5:n.809A>G (SLC37A4)
ENST00000530407.5:n.1271A>G (SLC37A4)
ENST00000532085.1:n.5139A>G (SLC37A4)
ENST00000533058.5:c.*144T>C (TRAPPC4)	ENSP00000432920.1:n.*144T>C
ENST00000538950.5:c.902A>G (SLC37A4)	ENSP00000475991.2:p.Asn301Ser
ENST00000545985.5:c.1121A>G (SLC37A4)	ENSP00000475241.2:p.Asn374Ser
NM_001164277.1:c.1121A>G , LRG_187t1:c.1121A>G (SLC37A4)	NP_001157749.1:p.Asn374Ser
NM_001164278.1:c.1187A>G (SLC37A4)	NP_001157750.1:p.Asn396Ser
NM_001164279.1:c.902A>G (SLC37A4)	NP_001157751.1:p.Asn301Ser
NM_001164280.1:c.1121A>G (SLC37A4)	NP_001157752.1:p.Asn374Ser
NM_001467.5:c.1121A>G (SLC37A4)	NP_001458.1:p.Asn374Ser
NM_001164278.2:c.1187A>G (SLC37A4)	NP_001157750.1:p.Asn396Ser
NM_001164279.2:c.902A>G (SLC37A4)	NP_001157751.1:p.Asn301Ser
NM_001164280.2:c.1121A>G (SLC37A4)	NP_001157752.1:p.Asn374Ser
NM_001467.6:c.1121A>G (SLC37A4)	NP_001458.1:p.Asn374Ser
NM_001164277.2:c.1121A>G (SLC37A4) MANE Select	NP_001157749.1:p.Asn374Ser