Canonical Allele Identifier: CA368198738

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2854866
• ClinVar RCV Id: RCV003759167
• dbSNP Id: rs1792851805
• gnomAD v4: 7-92517547-T-A
• MyVariant Identifiers: chr7:g.92146861T>A (hg19) ; chr7:g.92517547T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517547T>A , CM000669.2:g.92517547T>A	GRCh38
NC_000007.13:g.92146861T>A , CM000669.1:g.92146861T>A	GRCh37
NC_000007.12:g.91984797T>A	NCBI36
NG_008341.1:g.15985A>T
NG_008341.2:g.15985A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.968A>T MANE Select	ENSP00000248633.4:p.Asp323Val
ENST00000248633.8:c.968A>T	ENSP00000248633.4:p.Asp323Val
ENST00000428214.5:c.968A>T	ENSP00000394413.1:p.Asp323Val
ENST00000438045.5:c.274-3580A>T	ENSP00000410438.1:n.274-3580A>T
ENST00000484913.5:n.1007A>T
NM_000466.2:c.968A>T	NP_000457.1:p.Asp323Val
NM_001282677.1:c.968A>T	NP_001269606.1:p.Asp323Val
NM_001282678.1:c.344A>T	NP_001269607.1:p.Asp115Val
XR_242246.3:n.1064A>T
XM_017012319.2:c.-699A>T	XP_016867808.1:n.-699A>T
XR_001744808.2:n.78A>T
XR_242246.5:n.1015A>T
NM_000466.3:c.968A>T MANE Select	NP_000457.1:p.Asp323Val
NM_001282677.2:c.968A>T	NP_001269606.1:p.Asp323Val
NM_001282678.2:c.344A>T	NP_001269607.1:p.Asp115Val