Canonical Allele Identifier: CA827919

Gene: PRDX1 MMACHC

Linked Data

• ClinVar Variation Id: 495209
• ClinVar RCV Id: RCV000585802 ; RCV001815417 ; RCV003451324
• dbSNP Id: rs751828470
• ExAC: 1:45977087 C / A
• gnomAD v2: 1-45977087-C-A
• gnomAD v4: 1-45511415-C-A
• MyVariant Identifiers: chr1:g.45977087C>A (hg19) ; chr1:g.45511415C>A (hg38)
• PubMed: PMID:29302025

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45511415C>A , CM000663.2:g.45511415C>A	GRCh38
NC_000001.10:g.45977087C>A , CM000663.1:g.45977087C>A	GRCh37
NC_000001.9:g.45749674C>A	NCBI36
NG_013378.1:g.16232C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000319248.13:c.515-1G>T (PRDX1) MANE Select	ENSP00000361152.5:n.515-1G>T
ENST00000401061.9:c.*2200C>A (MMACHC) MANE Select	ENSP00000383840.4:n.*2200C>A
ENST00000424390.2:c.515-1G>T (PRDX1)	ENSP00000389047.2:n.515-1G>T
ENST00000447184.6:c.515-1G>T (PRDX1)	ENSP00000407034.2:n.515-1G>T
ENST00000676549.1:c.515-1G>T (PRDX1)	ENSP00000503140.1:n.515-1G>T
ENST00000262746.5:c.515-1G>T (PRDX1)	ENSP00000262746.1:n.515-1G>T
ENST00000319248.12:c.515-1G>T (PRDX1)	ENSP00000361152.5:n.515-1G>T
ENST00000372079.1:c.209-1G>T (PRDX1)	ENSP00000361150.1:n.209-1G>T
ENST00000401061.8:c.*2200C>A (MMACHC)	ENSP00000383840.4:n.*2200C>A
NM_001202431.1:c.515-1G>T (PRDX1)	NP_001189360.1:n.515-1G>T
NM_002574.3:c.515-1G>T (PRDX1)	NP_002565.1:n.515-1G>T
NM_181696.2:c.515-1G>T (PRDX1)	NP_859047.1:n.515-1G>T
NM_181697.2:c.515-1G>T (PRDX1)	NP_859048.1:n.515-1G>T
NM_015506.3:c.*2200C>A (MMACHC) MANE Select	NP_056321.2:n.*2200C>A
NM_181697.3:c.515-1G>T (PRDX1) MANE Select	NP_859048.1:n.515-1G>T
NM_001330540.2:c.*2200C>A (MMACHC)	NP_001317469.1:n.*2200C>A
NM_001202431.2:c.515-1G>T (PRDX1)	NP_001189360.1:n.515-1G>T
NM_002574.4:c.515-1G>T (PRDX1)	NP_002565.1:n.515-1G>T
NM_181696.3:c.515-1G>T (PRDX1)	NP_859047.1:n.515-1G>T