Canonical Allele Identifier: CA368190014

Gene: PEX1

Linked Data

• dbSNP Id: rs1317492782
• gnomAD v2: 7-92140287-G-A
• gnomAD v4: 7-92510973-G-A
• MyVariant Identifiers: chr7:g.92140287G>A (hg19) ; chr7:g.92510973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510973G>A , CM000669.2:g.92510973G>A	GRCh38
NC_000007.13:g.92140287G>A , CM000669.1:g.92140287G>A	GRCh37
NC_000007.12:g.91978223G>A	NCBI36
NG_008341.1:g.22559C>T
NG_008341.2:g.22559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1558C>T MANE Select	ENSP00000248633.4:p.Pro520Ser
ENST00000248633.8:c.1558C>T	ENSP00000248633.4:p.Pro520Ser
ENST00000422866.1:c.459C>T
ENST00000428214.5:c.1558C>T	ENSP00000394413.1:p.Pro520Ser
ENST00000438045.5:c.592C>T	ENSP00000410438.1:p.Pro198Ser
ENST00000476923.1:n.319C>T
ENST00000484913.5:n.1597C>T
NM_000466.2:c.1558C>T	NP_000457.1:p.Pro520Ser
NM_001282677.1:c.1558C>T	NP_001269606.1:p.Pro520Ser
NM_001282678.1:c.934C>T	NP_001269607.1:p.Pro312Ser
XM_005250433.3:c.-109C>T	XP_005250490.1:n.-109C>T
XR_242246.3:n.1654C>T
XM_017012319.2:c.-109C>T	XP_016867808.1:n.-109C>T
XR_001744808.2:n.668C>T
XR_242246.5:n.1605C>T
NM_000466.3:c.1558C>T MANE Select	NP_000457.1:p.Pro520Ser
NM_001282677.2:c.1558C>T	NP_001269606.1:p.Pro520Ser
NM_001282678.2:c.934C>T	NP_001269607.1:p.Pro312Ser