Canonical Allele Identifier: CA248895

Gene: PTCD1 ATP5MF-PTCD1

Linked Data

• ClinVar Variation Id: 218721
• ClinVar RCV Id: RCV000202698
• dbSNP Id: rs201365604
• ExAC: 7:99032571 G / A
• gnomAD v2: 7-99032571-G-A
• gnomAD v3: 7-99434948-G-A
• gnomAD v4: 7-99434948-G-A
• MyVariant Identifiers: chr7:g.99032571G>A (hg19) ; chr7:g.99434948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99434948G>A , CM000669.2:g.99434948G>A	GRCh38
NC_000007.13:g.99032571G>A , CM000669.1:g.99032571G>A	GRCh37
NC_000007.12:g.98870507G>A	NCBI36
NG_042827.1:g.8892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292478.9:c.295C>T (PTCD1) MANE Select	ENSP00000292478.5:p.Arg99Trp
ENST00000292478.8:c.295C>T (PTCD1)	ENSP00000292478.4:p.Arg99Trp
ENST00000413834.5:c.442C>T (ATP5MF-PTCD1)	ENSP00000400168.1:p.Arg148Trp
ENST00000419981.1:c.295C>T (PTCD1)	ENSP00000401600.1:p.Arg99Trp
ENST00000430029.1:c.295C>T (PTCD1)	ENSP00000408059.1:p.Arg99Trp
ENST00000430982.1:c.295C>T (PTCD1)	ENSP00000390530.1:p.Arg99Trp
ENST00000485746.1:n.72C>T (PTCD1)
NM_001198879.1:c.442C>T (ATP5MF-PTCD1)	NP_001185808.1:p.Arg148Trp
NM_015545.3:c.295C>T (PTCD1)	NP_056360.2:p.Arg99Trp
NM_001198879.2:c.442C>T (ATP5MF-PTCD1)	NP_001185808.1:p.Arg148Trp
NM_015545.4:c.295C>T (PTCD1) MANE Select	NP_056360.2:p.Arg99Trp