Canonical Allele Identifier: CA368171257

Gene: PEX1

Linked Data

• dbSNP Id: rs1791673529
• gnomAD v3: 7-92496774-G-A
• gnomAD v4: 7-92496774-G-A
• MyVariant Identifiers: chr7:g.92126088G>A (hg19) ; chr7:g.92496774G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496774G>A , CM000669.2:g.92496774G>A	GRCh38
NC_000007.13:g.92126088G>A , CM000669.1:g.92126088G>A	GRCh37
NC_000007.12:g.91964024G>A	NCBI36
NG_008341.1:g.36758C>T
NG_008341.2:g.36758C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2722C>T MANE Select	ENSP00000248633.4:p.Pro908Ser
ENST00000248633.8:c.2722C>T	ENSP00000248633.4:p.Pro908Ser
ENST00000428214.5:c.2551C>T	ENSP00000394413.1:p.Pro851Ser
ENST00000438045.5:c.1756C>T	ENSP00000410438.1:p.Pro586Ser
ENST00000484913.5:n.2761C>T
ENST00000496420.5:n.2614C>T
NM_000466.2:c.2722C>T	NP_000457.1:p.Pro908Ser
NM_001282677.1:c.2551C>T	NP_001269606.1:p.Pro851Ser
NM_001282678.1:c.2098C>T	NP_001269607.1:p.Pro700Ser
XM_005250433.3:c.973C>T	XP_005250490.1:p.Pro325Ser
XR_242246.3:n.2818C>T
XM_017012319.2:c.973C>T	XP_016867808.1:p.Pro325Ser
XR_001744808.2:n.1749C>T
XR_242246.5:n.2769C>T
NM_000466.3:c.2722C>T MANE Select	NP_000457.1:p.Pro908Ser
NM_001282677.2:c.2551C>T	NP_001269606.1:p.Pro851Ser
NM_001282678.2:c.2098C>T	NP_001269607.1:p.Pro700Ser