Canonical Allele Identifier: CA368173320

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499731-C-G
• MyVariant Identifiers: chr7:g.92129045C>G (hg19) ; chr7:g.92499731C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499731C>G , CM000669.2:g.92499731C>G	GRCh38
NC_000007.13:g.92129045C>G , CM000669.1:g.92129045C>G	GRCh37
NC_000007.12:g.91966981C>G	NCBI36
NG_008341.1:g.33801G>C
NG_008341.2:g.33801G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2691G>C MANE Select	ENSP00000248633.4:p.Glu897Asp
ENST00000248633.8:c.2691G>C	ENSP00000248633.4:p.Glu897Asp
ENST00000428214.5:c.2520G>C	ENSP00000394413.1:p.Glu840Asp
ENST00000438045.5:c.1725G>C	ENSP00000410438.1:p.Glu575Asp
ENST00000484913.5:n.2730G>C
ENST00000496420.5:n.2583G>C
NM_000466.2:c.2691G>C	NP_000457.1:p.Glu897Asp
NM_001282677.1:c.2520G>C	NP_001269606.1:p.Glu840Asp
NM_001282678.1:c.2067G>C	NP_001269607.1:p.Glu689Asp
XM_005250433.3:c.942G>C	XP_005250490.1:p.Glu314Asp
XR_242246.3:n.2787G>C
XM_017012319.2:c.942G>C	XP_016867808.1:p.Glu314Asp
XR_001744808.2:n.1718G>C
XR_242246.5:n.2738G>C
NM_000466.3:c.2691G>C MANE Select	NP_000457.1:p.Glu897Asp
NM_001282677.2:c.2520G>C	NP_001269606.1:p.Glu840Asp
NM_001282678.2:c.2067G>C	NP_001269607.1:p.Glu689Asp