Canonical Allele Identifier: CA368177411

Gene: PEX1

Linked Data

• gnomAD v4: 7-92501947-G-T
• MyVariant Identifiers: chr7:g.92131261G>T (hg19) ; chr7:g.92501947G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501947G>T , CM000669.2:g.92501947G>T	GRCh38
NC_000007.13:g.92131261G>T , CM000669.1:g.92131261G>T	GRCh37
NC_000007.12:g.91969197G>T	NCBI36
NG_008341.1:g.31585C>A
NG_008341.2:g.31585C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2359C>A MANE Select	ENSP00000248633.4:p.Leu787Ile
ENST00000248633.8:c.2359C>A	ENSP00000248633.4:p.Leu787Ile
ENST00000428214.5:c.2188C>A	ENSP00000394413.1:p.Leu730Ile
ENST00000438045.5:c.1393C>A	ENSP00000410438.1:p.Leu465Ile
ENST00000484913.5:n.2398C>A
ENST00000496092.1:n.157C>A
ENST00000496420.5:n.2035C>A
NM_000466.2:c.2359C>A	NP_000457.1:p.Leu787Ile
NM_001282677.1:c.2188C>A	NP_001269606.1:p.Leu730Ile
NM_001282678.1:c.1735C>A	NP_001269607.1:p.Leu579Ile
XM_005250433.3:c.610C>A	XP_005250490.1:p.Leu204Ile
XR_242246.3:n.2455C>A
XM_017012319.2:c.610C>A	XP_016867808.1:p.Leu204Ile
XR_001744808.2:n.1386C>A
XR_242246.5:n.2406C>A
NM_000466.3:c.2359C>A MANE Select	NP_000457.1:p.Leu787Ile
NM_001282677.2:c.2188C>A	NP_001269606.1:p.Leu730Ile
NM_001282678.2:c.1735C>A	NP_001269607.1:p.Leu579Ile