Canonical Allele Identifier: CA359218465

Gene: TRIO

Linked Data

• ClinVar Variation Id: 449111
• ClinVar RCV Id: RCV000522592 ; RCV000623993 ; RCV000760240
• MyVariant Identifiers: chr5:g.14374353C>T (hg19) ; chr5:g.14374244C>T (hg38)
• PubMed: PMID:8643598 ; PMID:22495306 ; PMID:23033978 ; PMID:24038936 ; PMID:25363760 ; PMID:25533962 ; PMID:26721934 ; PMID:27418539 ; PMID:28928363

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14374244C>T , CM000667.2:g.14374244C>T	GRCh38
NC_000005.9:g.14374353C>T , CM000667.1:g.14374353C>T	GRCh37
NC_000005.8:g.14427353C>T	NCBI36
NG_052962.1:g.235543C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698541.1:c.3232C>T	ENSP00000513786.1:p.Arg1078Trp
ENST00000344204.9:c.3232C>T MANE Select	ENSP00000339299.4:p.Arg1078Trp
ENST00000344204.8:c.3232C>T	ENSP00000339299.4:p.Arg1078Trp
ENST00000509967.6:c.3085C>T	ENSP00000445592.1:p.Arg1029Trp
ENST00000512070.6:c.3055C>T	ENSP00000421555.2:p.Arg1019Trp
ENST00000513206.5:c.2431C>T	ENSP00000426342.2:p.Arg811Trp
ENST00000515144.5:n.2150C>T
NM_007118.2:c.3232C>T	NP_009049.2:p.Arg1078Trp
XM_011514107.1:c.3169C>T	XP_011512409.1:p.Arg1057Trp
XM_011514108.1:c.3115C>T	XP_011512410.1:p.Arg1039Trp
XM_011514109.1:c.3085C>T	XP_011512411.1:p.Arg1029Trp
XM_011514110.1:c.3055C>T	XP_011512412.1:p.Arg1019Trp
XM_011514111.1:c.3055C>T	XP_011512413.1:p.Arg1019Trp
XM_011514112.1:c.1777C>T	XP_011512414.1:p.Arg593Trp
XM_011514113.1:c.3232C>T	XP_011512415.1:p.Arg1078Trp
XR_241714.1:n.3250C>T
NM_007118.3:c.3232C>T	NP_009049.2:p.Arg1078Trp
NR_134469.1:n.3256C>T
XM_011514107.2:c.3169C>T	XP_011512409.1:p.Arg1057Trp
XM_011514109.3:c.3085C>T	XP_011512411.1:p.Arg1029Trp
XM_011514110.3:c.3055C>T	XP_011512412.1:p.Arg1019Trp
XM_017009801.1:c.3232C>T	XP_016865290.1:p.Arg1078Trp
XM_017009802.1:c.3232C>T	XP_016865291.1:p.Arg1078Trp
XM_017009803.1:c.1777C>T	XP_016865292.1:p.Arg593Trp
XR_001742236.2:n.3608C>T
NM_007118.4:c.3232C>T MANE Select	NP_009049.2:p.Arg1078Trp
NR_134469.2:n.3616C>T