Canonical Allele Identifier: CA368197338

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1363558
• ClinVar RCV Id: RCV001934948
• dbSNP Id: rs2116242607
• MyVariant Identifiers: chr7:g.92146639G>A (hg19) ; chr7:g.92517325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517325G>A , CM000669.2:g.92517325G>A	GRCh38
NC_000007.13:g.92146639G>A , CM000669.1:g.92146639G>A	GRCh37
NC_000007.12:g.91984575G>A	NCBI36
NG_008341.1:g.16207C>T
NG_008341.2:g.16207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1190C>T MANE Select	ENSP00000248633.4:p.Ala397Val
ENST00000248633.8:c.1190C>T	ENSP00000248633.4:p.Ala397Val
ENST00000422866.1:c.91C>T
ENST00000428214.5:c.1190C>T	ENSP00000394413.1:p.Ala397Val
ENST00000438045.5:c.274-3358C>T	ENSP00000410438.1:n.274-3358C>T
ENST00000484913.5:n.1229C>T
NM_000466.2:c.1190C>T	NP_000457.1:p.Ala397Val
NM_001282677.1:c.1190C>T	NP_001269606.1:p.Ala397Val
NM_001282678.1:c.566C>T	NP_001269607.1:p.Ala189Val
XR_242246.3:n.1286C>T
XM_017012319.2:c.-477C>T	XP_016867808.1:n.-477C>T
XR_001744808.2:n.300C>T
XR_242246.5:n.1237C>T
NM_000466.3:c.1190C>T MANE Select	NP_000457.1:p.Ala397Val
NM_001282677.2:c.1190C>T	NP_001269606.1:p.Ala397Val
NM_001282678.2:c.566C>T	NP_001269607.1:p.Ala189Val