Canonical Allele Identifier: CA7844040

Gene: TBC1D24

Linked Data

• ClinVar Variation Id: 448646
• ClinVar RCV Id: RCV000516622 ; RCV001484142
• dbSNP Id: rs750100459
• ExAC: 16:2546800 T / C
• gnomAD v2: 16-2546800-T-C
• gnomAD v3: 16-2496799-T-C
• gnomAD v4: 16-2496799-T-C
• MyVariant Identifiers: chr16:g.2546800T>C (hg19) ; chr16:g.2496799T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2496799T>C , CM000678.2:g.2496799T>C	GRCh38
NC_000016.9:g.2546800T>C , CM000678.1:g.2546800T>C	GRCh37
NC_000016.8:g.2486801T>C	NCBI36
NG_028170.1:g.26654T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000562105.2:c.651T>C	ENSP00000457896.2:p.Phe217=
ENST00000567020.6:c.651T>C	ENSP00000454408.1:p.Phe217=
ENST00000569874.2:c.651T>C	ENSP00000455005.2:p.Phe217=
ENST00000643767.1:c.651T>C	ENSP00000494145.1:p.Phe217=
ENST00000646147.1:c.651T>C MANE Select	ENSP00000494678.1:p.Phe217=
ENST00000293970.9:c.651T>C	ENSP00000293970.5:p.Phe217=
ENST00000564543.1:c.651T>C	ENSP00000455547.1:p.Phe217=
ENST00000567020.5:c.651T>C	ENSP00000454408.1:p.Phe217=
ENST00000627285.1:c.651T>C	ENSP00000486121.1:p.Phe217=
ENST00000630263.2:c.651T>C	ENSP00000486835.1:p.Phe217=
NM_001199107.1:c.651T>C	NP_001186036.1:p.Phe217=
NM_020705.2:c.651T>C	NP_065756.1:p.Phe217=
XM_017023493.1:c.651T>C	XP_016878982.1:p.Phe217=
XM_017023494.1:c.651T>C	XP_016878983.1:p.Phe217=
XM_017023495.1:c.651T>C	XP_016878984.1:p.Phe217=
XR_001751956.1:n.833T>C
NM_001199107.2:c.651T>C MANE Select	NP_001186036.1:p.Phe217=
NM_020705.3:c.651T>C	NP_065756.1:p.Phe217=