Canonical Allele Identifier: CA4365286

Gene: PTCD1 ATP5MF-PTCD1

Linked Data

• ClinVar Variation Id: 3131760
• ClinVar RCV Id: RCV004418619
• dbSNP Id: rs778029936
• ExAC: 7:99032700 C / T
• gnomAD v2: 7-99032700-C-T
• gnomAD v3: 7-99435077-C-T
• gnomAD v4: 7-99435077-C-T
• MyVariant Identifiers: chr7:g.99032700C>T (hg19) ; chr7:g.99435077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99435077C>T , CM000669.2:g.99435077C>T	GRCh38
NC_000007.13:g.99032700C>T , CM000669.1:g.99032700C>T	GRCh37
NC_000007.12:g.98870636C>T	NCBI36
NG_042827.1:g.8763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292478.9:c.166G>A (PTCD1) MANE Select	ENSP00000292478.5:p.Gly56Ser
ENST00000292478.8:c.166G>A (PTCD1)	ENSP00000292478.4:p.Gly56Ser
ENST00000413834.5:c.313G>A (ATP5MF-PTCD1)	ENSP00000400168.1:p.Gly105Ser
ENST00000419981.1:c.166G>A (PTCD1)	ENSP00000401600.1:p.Gly56Ser
ENST00000430029.1:c.166G>A (PTCD1)	ENSP00000408059.1:p.Gly56Ser
ENST00000430982.1:c.166G>A (PTCD1)	ENSP00000390530.1:p.Gly56Ser
ENST00000437572.1:n.498G>A (ATP5MF-PTCD1)
NM_001198879.1:c.313G>A (ATP5MF-PTCD1)	NP_001185808.1:p.Gly105Ser
NM_015545.3:c.166G>A (PTCD1)	NP_056360.2:p.Gly56Ser
NM_001198879.2:c.313G>A (ATP5MF-PTCD1)	NP_001185808.1:p.Gly105Ser
NM_015545.4:c.166G>A (PTCD1) MANE Select	NP_056360.2:p.Gly56Ser