Canonical Allele Identifier: CA4365098

Gene: PTCD1 ATP5MF-PTCD1

Linked Data

• ClinVar Variation Id: 3131784
• ClinVar RCV Id: RCV004418643
• dbSNP Id: rs775141794
• ExAC: 7:99027270 C / T
• gnomAD v2: 7-99027270-C-T
• gnomAD v4: 7-99429647-C-T
• COSMIC: COSM5005093 ; COSM5005094
• MyVariant Identifiers: chr7:g.99027270C>T (hg19) ; chr7:g.99429647C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99429647C>T , CM000669.2:g.99429647C>T	GRCh38
NC_000007.13:g.99027270C>T , CM000669.1:g.99027270C>T	GRCh37
NC_000007.12:g.98865206C>T	NCBI36
NG_042827.1:g.14193G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292478.9:c.754G>A (PTCD1) MANE Select	ENSP00000292478.5:p.Ala252Thr
ENST00000292478.8:c.754G>A (PTCD1)	ENSP00000292478.4:p.Ala252Thr
ENST00000413834.5:c.901G>A (ATP5MF-PTCD1)	ENSP00000400168.1:p.Ala301Thr
ENST00000485746.1:n.555G>A (PTCD1)
NM_001198879.1:c.901G>A (ATP5MF-PTCD1)	NP_001185808.1:p.Ala301Thr
NM_015545.3:c.754G>A (PTCD1)	NP_056360.2:p.Ala252Thr
NM_001198879.2:c.901G>A (ATP5MF-PTCD1)	NP_001185808.1:p.Ala301Thr
NM_015545.4:c.754G>A (PTCD1) MANE Select	NP_056360.2:p.Ala252Thr