Canonical Allele Identifier: CA368197559

Gene: PEX1

Linked Data

• dbSNP Id: rs1792837210
• gnomAD v3: 7-92517347-C-T
• gnomAD v4: 7-92517347-C-T
• MyVariant Identifiers: chr7:g.92146661C>T (hg19) ; chr7:g.92517347C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517347C>T , CM000669.2:g.92517347C>T	GRCh38
NC_000007.13:g.92146661C>T , CM000669.1:g.92146661C>T	GRCh37
NC_000007.12:g.91984597C>T	NCBI36
NG_008341.1:g.16185G>A
NG_008341.2:g.16185G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1168G>A MANE Select	ENSP00000248633.4:p.Gly390Arg
ENST00000248633.8:c.1168G>A	ENSP00000248633.4:p.Gly390Arg
ENST00000422866.1:c.69G>A
ENST00000428214.5:c.1168G>A	ENSP00000394413.1:p.Gly390Arg
ENST00000438045.5:c.274-3380G>A	ENSP00000410438.1:n.274-3380G>A
ENST00000484913.5:n.1207G>A
NM_000466.2:c.1168G>A	NP_000457.1:p.Gly390Arg
NM_001282677.1:c.1168G>A	NP_001269606.1:p.Gly390Arg
NM_001282678.1:c.544G>A	NP_001269607.1:p.Gly182Arg
XR_242246.3:n.1264G>A
XM_017012319.2:c.-499G>A	XP_016867808.1:n.-499G>A
XR_001744808.2:n.278G>A
XR_242246.5:n.1215G>A
NM_000466.3:c.1168G>A MANE Select	NP_000457.1:p.Gly390Arg
NM_001282677.2:c.1168G>A	NP_001269606.1:p.Gly390Arg
NM_001282678.2:c.544G>A	NP_001269607.1:p.Gly182Arg