Canonical Allele Identifier: CA368177598

Gene: PEX1

Linked Data

• gnomAD v4: 7-92501968-C-G
• MyVariant Identifiers: chr7:g.92131282C>G (hg19) ; chr7:g.92501968C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501968C>G , CM000669.2:g.92501968C>G	GRCh38
NC_000007.13:g.92131282C>G , CM000669.1:g.92131282C>G	GRCh37
NC_000007.12:g.91969218C>G	NCBI36
NG_008341.1:g.31564G>C
NG_008341.2:g.31564G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2338G>C MANE Select	ENSP00000248633.4:p.Val780Leu
ENST00000248633.8:c.2338G>C	ENSP00000248633.4:p.Val780Leu
ENST00000428214.5:c.2167G>C	ENSP00000394413.1:p.Val723Leu
ENST00000438045.5:c.1372G>C	ENSP00000410438.1:p.Val458Leu
ENST00000484913.5:n.2377G>C
ENST00000496092.1:n.136G>C
ENST00000496420.5:n.2014G>C
NM_000466.2:c.2338G>C	NP_000457.1:p.Val780Leu
NM_001282677.1:c.2167G>C	NP_001269606.1:p.Val723Leu
NM_001282678.1:c.1714G>C	NP_001269607.1:p.Val572Leu
XM_005250433.3:c.589G>C	XP_005250490.1:p.Val197Leu
XR_242246.3:n.2434G>C
XM_017012319.2:c.589G>C	XP_016867808.1:p.Val197Leu
XR_001744808.2:n.1365G>C
XR_242246.5:n.2385G>C
NM_000466.3:c.2338G>C MANE Select	NP_000457.1:p.Val780Leu
NM_001282677.2:c.2167G>C	NP_001269606.1:p.Val723Leu
NM_001282678.2:c.1714G>C	NP_001269607.1:p.Val572Leu