Canonical Allele Identifier: CA4364754

Gene: PTCD1 ATP5MF-PTCD1

Linked Data

• ClinVar Variation Id: 3131748
• ClinVar RCV Id: RCV004418607
• dbSNP Id: rs765264665
• ExAC: 7:99021441 C / T
• gnomAD v2: 7-99021441-C-T
• gnomAD v3: 7-99423818-C-T
• gnomAD v4: 7-99423818-C-T
• COSMIC: COSM5873510 ; COSM5873511
• MyVariant Identifiers: chr7:g.99021441C>T (hg19) ; chr7:g.99423818C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99423818C>T , CM000669.2:g.99423818C>T	GRCh38
NC_000007.13:g.99021441C>T , CM000669.1:g.99021441C>T	GRCh37
NC_000007.12:g.98859377C>T	NCBI36
NG_042827.1:g.20022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292478.9:c.1877G>A (PTCD1) MANE Select	ENSP00000292478.5:p.Arg626His
ENST00000292478.8:c.1877G>A (PTCD1)	ENSP00000292478.4:p.Arg626His
ENST00000413834.5:c.2024G>A (ATP5MF-PTCD1)	ENSP00000400168.1:p.Arg675His
NM_001198879.1:c.2024G>A (ATP5MF-PTCD1)	NP_001185808.1:p.Arg675His
NM_015545.3:c.1877G>A (PTCD1)	NP_056360.2:p.Arg626His
NM_001198879.2:c.2024G>A (ATP5MF-PTCD1)	NP_001185808.1:p.Arg675His
NM_015545.4:c.1877G>A (PTCD1) MANE Select	NP_056360.2:p.Arg626His