Canonical Allele Identifier: CA368178802

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502072-C-G
• MyVariant Identifiers: chr7:g.92131386C>G (hg19) ; chr7:g.92502072C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502072C>G , CM000669.2:g.92502072C>G	GRCh38
NC_000007.13:g.92131386C>G , CM000669.1:g.92131386C>G	GRCh37
NC_000007.12:g.91969322C>G	NCBI36
NG_008341.1:g.31460G>C
NG_008341.2:g.31460G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2234G>C MANE Select	ENSP00000248633.4:p.Arg745Thr
ENST00000248633.8:c.2234G>C	ENSP00000248633.4:p.Arg745Thr
ENST00000428214.5:c.2063G>C	ENSP00000394413.1:p.Arg688Thr
ENST00000438045.5:c.1268G>C	ENSP00000410438.1:p.Arg423Thr
ENST00000484913.5:n.2273G>C
ENST00000496092.1:n.32G>C
ENST00000496420.5:n.1910G>C
NM_000466.2:c.2234G>C	NP_000457.1:p.Arg745Thr
NM_001282677.1:c.2063G>C	NP_001269606.1:p.Arg688Thr
NM_001282678.1:c.1610G>C	NP_001269607.1:p.Arg537Thr
XM_005250433.3:c.485G>C	XP_005250490.1:p.Arg162Thr
XR_242246.3:n.2330G>C
XM_017012319.2:c.485G>C	XP_016867808.1:p.Arg162Thr
XR_001744808.2:n.1261G>C
XR_242246.5:n.2281G>C
NM_000466.3:c.2234G>C MANE Select	NP_000457.1:p.Arg745Thr
NM_001282677.2:c.2063G>C	NP_001269606.1:p.Arg688Thr
NM_001282678.2:c.1610G>C	NP_001269607.1:p.Arg537Thr