Canonical Allele Identifier: CA347144

Gene: TBC1D24

Linked Data

• ClinVar Variation Id: 183157
• ClinVar RCV Id: RCV001814074 ; RCV001850283 ; RCV002468571
• dbSNP Id: rs765965968
• ExAC: 16:2548334 G / T
• gnomAD v2: 16-2548334-G-T
• gnomAD v4: 16-2498333-G-T
• MyVariant Identifiers: chr16:g.2548334G>T (hg19) ; chr16:g.2498333G>T (hg38)
• PubMed: PMID:25719194

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2498333G>T , CM000678.2:g.2498333G>T	GRCh38
NC_000016.9:g.2548334G>T , CM000678.1:g.2548334G>T	GRCh37
NC_000016.8:g.2488335G>T	NCBI36
NG_028170.1:g.28188G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000562105.2:c.1079G>T	ENSP00000457896.2:p.Arg360Leu
ENST00000567020.6:c.1061G>T	ENSP00000454408.1:p.Arg354Leu
ENST00000569874.2:c.1061G>T	ENSP00000455005.2:p.Arg354Leu
ENST00000643767.1:c.1061G>T	ENSP00000494145.1:p.Arg354Leu
ENST00000646147.1:c.1079G>T MANE Select	ENSP00000494678.1:p.Arg360Leu
ENST00000293970.9:c.1079G>T	ENSP00000293970.5:p.Arg360Leu
ENST00000564543.1:c.965+1220G>T	ENSP00000455547.1:n.965+1220G>T
ENST00000564879.2:c.12G>T
ENST00000567020.5:c.1061G>T	ENSP00000454408.1:p.Arg354Leu
ENST00000627285.1:c.1061G>T	ENSP00000486121.1:p.Arg354Leu
ENST00000630263.2:c.*37G>T	ENSP00000486835.1:n.*37G>T
NM_001199107.1:c.1079G>T	NP_001186036.1:p.Arg360Leu
NM_020705.2:c.1061G>T	NP_065756.1:p.Arg354Leu
XM_017023493.1:c.1079G>T	XP_016878982.1:p.Arg360Leu
XM_017023494.1:c.1061G>T	XP_016878983.1:p.Arg354Leu
XM_017023495.1:c.1061G>T	XP_016878984.1:p.Arg354Leu
XR_001751956.1:n.1261G>T
NM_001199107.2:c.1079G>T MANE Select	NP_001186036.1:p.Arg360Leu
NM_020705.3:c.1061G>T	NP_065756.1:p.Arg354Leu