Canonical Allele Identifier: CA161965536

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2191829
• ClinVar RCV Id: RCV002620801
• dbSNP Id: rs921223589
• gnomAD v2: 7-92135564-C-T
• gnomAD v3: 7-92506250-C-T
• gnomAD v4: 7-92506250-C-T
• MyVariant Identifiers: chr7:g.92135564C>T (hg19) ; chr7:g.92506250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506250C>T , CM000669.2:g.92506250C>T	GRCh38
NC_000007.13:g.92135564C>T , CM000669.1:g.92135564C>T	GRCh37
NC_000007.12:g.91973500C>T	NCBI36
NG_008341.1:g.27282G>A
NG_008341.2:g.27282G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1898G>A MANE Select	ENSP00000248633.4:p.Arg633Gln
ENST00000248633.8:c.1898G>A	ENSP00000248633.4:p.Arg633Gln
ENST00000422866.1:c.716G>A
ENST00000428214.5:c.1898G>A	ENSP00000394413.1:p.Arg633Gln
ENST00000438045.5:c.932G>A	ENSP00000410438.1:p.Arg311Gln
ENST00000484913.5:n.1937G>A
ENST00000496420.5:n.1574G>A
NM_000466.2:c.1898G>A	NP_000457.1:p.Arg633Gln
NM_001282677.1:c.1898G>A	NP_001269606.1:p.Arg633Gln
NM_001282678.1:c.1274G>A	NP_001269607.1:p.Arg425Gln
XM_005250433.3:c.149G>A	XP_005250490.1:p.Arg50Gln
XR_242246.3:n.1994G>A
XM_017012319.2:c.149G>A	XP_016867808.1:p.Arg50Gln
XR_001744808.2:n.925G>A
XR_242246.5:n.1945G>A
NM_000466.3:c.1898G>A MANE Select	NP_000457.1:p.Arg633Gln
NM_001282677.2:c.1898G>A	NP_001269606.1:p.Arg633Gln
NM_001282678.2:c.1274G>A	NP_001269607.1:p.Arg425Gln