Canonical Allele Identifier: CA368170773

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496715-A-C
• MyVariant Identifiers: chr7:g.92126029A>C (hg19) ; chr7:g.92496715A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496715A>C , CM000669.2:g.92496715A>C	GRCh38
NC_000007.13:g.92126029A>C , CM000669.1:g.92126029A>C	GRCh37
NC_000007.12:g.91963965A>C	NCBI36
NG_008341.1:g.36817T>G
NG_008341.2:g.36817T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2781T>G MANE Select	ENSP00000248633.4:p.Ile927Met
ENST00000248633.8:c.2781T>G	ENSP00000248633.4:p.Ile927Met
ENST00000428214.5:c.2610T>G	ENSP00000394413.1:p.Ile870Met
ENST00000438045.5:c.1815T>G	ENSP00000410438.1:p.Ile605Met
ENST00000484913.5:n.2820T>G
ENST00000496420.5:n.2673T>G
NM_000466.2:c.2781T>G	NP_000457.1:p.Ile927Met
NM_001282677.1:c.2610T>G	NP_001269606.1:p.Ile870Met
NM_001282678.1:c.2157T>G	NP_001269607.1:p.Ile719Met
XM_005250433.3:c.1032T>G	XP_005250490.1:p.Ile344Met
XR_242246.3:n.2877T>G
XM_017012319.2:c.1032T>G	XP_016867808.1:p.Ile344Met
XR_001744808.2:n.1808T>G
XR_242246.5:n.2828T>G
NM_000466.3:c.2781T>G MANE Select	NP_000457.1:p.Ile927Met
NM_001282677.2:c.2610T>G	NP_001269606.1:p.Ile870Met
NM_001282678.2:c.2157T>G	NP_001269607.1:p.Ile719Met