Canonical Allele Identifier: CA7844057
Gene: TBC1D24 HGNC NCBI

Linked Data

ClinVar Variation Id: 626176
dbSNP Id: rs370477379
gnomAD v2: 16-2546883-T-C
gnomAD v4: 16-2496882-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2496882T>C , CM000678.2:g.2496882T>C GRCh38
NC_000016.9:g.2546883T>C , CM000678.1:g.2546883T>C GRCh37
NC_000016.8:g.2486884T>C NCBI36
NG_028170.1:g.26737T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000562105.2:c.734T>C ENSP00000457896.2:p.Leu245Pro
ENST00000567020.6:c.734T>C ENSP00000454408.1:p.Leu245Pro
ENST00000569874.2:c.734T>C ENSP00000455005.2:p.Leu245Pro
ENST00000643767.1:c.734T>C ENSP00000494145.1:p.Leu245Pro
ENST00000646147.1:c.734T>C MANE Select ENSP00000494678.1:p.Leu245Pro
ENST00000293970.9:c.734T>C ENSP00000293970.5:p.Leu245Pro
ENST00000564543.1:c.734T>C ENSP00000455547.1:p.Leu245Pro
ENST00000567020.5:c.734T>C ENSP00000454408.1:p.Leu245Pro
ENST00000627285.1:c.734T>C ENSP00000486121.1:p.Leu245Pro
ENST00000630263.2:c.734T>C ENSP00000486835.1:p.Leu245Pro
NM_001199107.1:c.734T>C NP_001186036.1:p.Leu245Pro
NM_020705.2:c.734T>C NP_065756.1:p.Leu245Pro
XM_017023493.1:c.734T>C XP_016878982.1:p.Leu245Pro
XM_017023494.1:c.734T>C XP_016878983.1:p.Leu245Pro
XM_017023495.1:c.734T>C XP_016878984.1:p.Leu245Pro
XR_001751956.1:n.916T>C
NM_001199107.2:c.734T>C MANE Select NP_001186036.1:p.Leu245Pro
NM_020705.3:c.734T>C NP_065756.1:p.Leu245Pro