Canonical Allele Identifier: CA368177998

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131314A>T (hg19) ; chr7:g.92502000A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502000A>T , CM000669.2:g.92502000A>T	GRCh38
NC_000007.13:g.92131314A>T , CM000669.1:g.92131314A>T	GRCh37
NC_000007.12:g.91969250A>T	NCBI36
NG_008341.1:g.31532T>A
NG_008341.2:g.31532T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2306T>A MANE Select	ENSP00000248633.4:p.Leu769Gln
ENST00000248633.8:c.2306T>A	ENSP00000248633.4:p.Leu769Gln
ENST00000428214.5:c.2135T>A	ENSP00000394413.1:p.Leu712Gln
ENST00000438045.5:c.1340T>A	ENSP00000410438.1:p.Leu447Gln
ENST00000484913.5:n.2345T>A
ENST00000496092.1:n.104T>A
ENST00000496420.5:n.1982T>A
NM_000466.2:c.2306T>A	NP_000457.1:p.Leu769Gln
NM_001282677.1:c.2135T>A	NP_001269606.1:p.Leu712Gln
NM_001282678.1:c.1682T>A	NP_001269607.1:p.Leu561Gln
XM_005250433.3:c.557T>A	XP_005250490.1:p.Leu186Gln
XR_242246.3:n.2402T>A
XM_017012319.2:c.557T>A	XP_016867808.1:p.Leu186Gln
XR_001744808.2:n.1333T>A
XR_242246.5:n.2353T>A
NM_000466.3:c.2306T>A MANE Select	NP_000457.1:p.Leu769Gln
NM_001282677.2:c.2135T>A	NP_001269606.1:p.Leu712Gln
NM_001282678.2:c.1682T>A	NP_001269607.1:p.Leu561Gln