Canonical Allele Identifier: CA340135035

Gene: PRDX1 MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45977002C>G (hg19) ; chr1:g.45511330C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45511330C>G , CM000663.2:g.45511330C>G	GRCh38
NC_000001.10:g.45977002C>G , CM000663.1:g.45977002C>G	GRCh37
NC_000001.9:g.45749589C>G	NCBI36
NG_013378.1:g.16147C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000319248.13:c.599G>C (PRDX1) MANE Select	ENSP00000361152.5:p.Ter200Ser
ENST00000401061.9:c.*2115C>G (MMACHC) MANE Select	ENSP00000383840.4:n.*2115C>G
ENST00000424390.2:c.599G>C (PRDX1)	ENSP00000389047.2:p.Ter200Ser
ENST00000447184.6:c.599G>C (PRDX1)	ENSP00000407034.2:p.Ter200Ser
ENST00000676549.1:c.599G>C (PRDX1)	ENSP00000503140.1:p.Ter200Ser
ENST00000262746.5:c.599G>C (PRDX1)	ENSP00000262746.1:p.Ter200Ser
ENST00000319248.12:c.599G>C (PRDX1)	ENSP00000361152.5:p.Ter200Ser
ENST00000372079.1:c.293G>C (PRDX1)	ENSP00000361150.1:p.Ter98Ser
ENST00000401061.8:c.*2115C>G (MMACHC)	ENSP00000383840.4:n.*2115C>G
NM_001202431.1:c.599G>C (PRDX1)	NP_001189360.1:p.Ter200Ser
NM_002574.3:c.599G>C (PRDX1)	NP_002565.1:p.Ter200Ser
NM_181696.2:c.599G>C (PRDX1)	NP_859047.1:p.Ter200Ser
NM_181697.2:c.599G>C (PRDX1)	NP_859048.1:p.Ter200Ser
NM_015506.3:c.*2115C>G (MMACHC) MANE Select	NP_056321.2:n.*2115C>G
NM_181697.3:c.599G>C (PRDX1) MANE Select	NP_859048.1:p.Ter200Ser
NM_001330540.2:c.*2115C>G (MMACHC)	NP_001317469.1:n.*2115C>G
NM_001202431.2:c.599G>C (PRDX1)	NP_001189360.1:p.Ter200Ser
NM_002574.4:c.599G>C (PRDX1)	NP_002565.1:p.Ter200Ser
NM_181696.3:c.599G>C (PRDX1)	NP_859047.1:p.Ter200Ser