Canonical Allele Identifier: CA368181252

Gene: PEX1

Linked Data

• gnomAD v4: 7-92503067-C-A
• MyVariant Identifiers: chr7:g.92132381C>A (hg19) ; chr7:g.92503067C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503067C>A , CM000669.2:g.92503067C>A	GRCh38
NC_000007.13:g.92132381C>A , CM000669.1:g.92132381C>A	GRCh37
NC_000007.12:g.91970317C>A	NCBI36
NG_008341.1:g.30465G>T
NG_008341.2:g.30465G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2200G>T MANE Select	ENSP00000248633.4:p.Val734Phe
ENST00000248633.8:c.2200G>T	ENSP00000248633.4:p.Val734Phe
ENST00000428214.5:c.2029G>T	ENSP00000394413.1:p.Val677Phe
ENST00000438045.5:c.1234G>T	ENSP00000410438.1:p.Val412Phe
ENST00000484913.5:n.2239G>T
ENST00000496420.5:n.1876G>T
NM_000466.2:c.2200G>T	NP_000457.1:p.Val734Phe
NM_001282677.1:c.2029G>T	NP_001269606.1:p.Val677Phe
NM_001282678.1:c.1576G>T	NP_001269607.1:p.Val526Phe
XM_005250433.3:c.451G>T	XP_005250490.1:p.Val151Phe
XR_242246.3:n.2296G>T
XM_017012319.2:c.451G>T	XP_016867808.1:p.Val151Phe
XR_001744808.2:n.1227G>T
XR_242246.5:n.2247G>T
NM_000466.3:c.2200G>T MANE Select	NP_000457.1:p.Val734Phe
NM_001282677.2:c.2029G>T	NP_001269606.1:p.Val677Phe
NM_001282678.2:c.1576G>T	NP_001269607.1:p.Val526Phe