Canonical Allele Identifier: CA368178071

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502007-G-A
• MyVariant Identifiers: chr7:g.92131321G>A (hg19) ; chr7:g.92502007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502007G>A , CM000669.2:g.92502007G>A	GRCh38
NC_000007.13:g.92131321G>A , CM000669.1:g.92131321G>A	GRCh37
NC_000007.12:g.91969257G>A	NCBI36
NG_008341.1:g.31525C>T
NG_008341.2:g.31525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2299C>T MANE Select	ENSP00000248633.4:p.Leu767Phe
ENST00000248633.8:c.2299C>T	ENSP00000248633.4:p.Leu767Phe
ENST00000428214.5:c.2128C>T	ENSP00000394413.1:p.Leu710Phe
ENST00000438045.5:c.1333C>T	ENSP00000410438.1:p.Leu445Phe
ENST00000484913.5:n.2338C>T
ENST00000496092.1:n.97C>T
ENST00000496420.5:n.1975C>T
NM_000466.2:c.2299C>T	NP_000457.1:p.Leu767Phe
NM_001282677.1:c.2128C>T	NP_001269606.1:p.Leu710Phe
NM_001282678.1:c.1675C>T	NP_001269607.1:p.Leu559Phe
XM_005250433.3:c.550C>T	XP_005250490.1:p.Leu184Phe
XR_242246.3:n.2395C>T
XM_017012319.2:c.550C>T	XP_016867808.1:p.Leu184Phe
XR_001744808.2:n.1326C>T
XR_242246.5:n.2346C>T
NM_000466.3:c.2299C>T MANE Select	NP_000457.1:p.Leu767Phe
NM_001282677.2:c.2128C>T	NP_001269606.1:p.Leu710Phe
NM_001282678.2:c.1675C>T	NP_001269607.1:p.Leu559Phe