Canonical Allele Identifier: CA368198123

Gene: PEX1

Linked Data

• dbSNP Id: rs1792844196
• gnomAD v3: 7-92517424-G-A
• gnomAD v4: 7-92517424-G-A
• MyVariant Identifiers: chr7:g.92146738G>A (hg19) ; chr7:g.92517424G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517424G>A , CM000669.2:g.92517424G>A	GRCh38
NC_000007.13:g.92146738G>A , CM000669.1:g.92146738G>A	GRCh37
NC_000007.12:g.91984674G>A	NCBI36
NG_008341.1:g.16108C>T
NG_008341.2:g.16108C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1091C>T MANE Select	ENSP00000248633.4:p.Pro364Leu
ENST00000248633.8:c.1091C>T	ENSP00000248633.4:p.Pro364Leu
ENST00000428214.5:c.1091C>T	ENSP00000394413.1:p.Pro364Leu
ENST00000438045.5:c.274-3457C>T	ENSP00000410438.1:n.274-3457C>T
ENST00000484913.5:n.1130C>T
NM_000466.2:c.1091C>T	NP_000457.1:p.Pro364Leu
NM_001282677.1:c.1091C>T	NP_001269606.1:p.Pro364Leu
NM_001282678.1:c.467C>T	NP_001269607.1:p.Pro156Leu
XR_242246.3:n.1187C>T
XM_017012319.2:c.-576C>T	XP_016867808.1:n.-576C>T
XR_001744808.2:n.201C>T
XR_242246.5:n.1138C>T
NM_000466.3:c.1091C>T MANE Select	NP_000457.1:p.Pro364Leu
NM_001282677.2:c.1091C>T	NP_001269606.1:p.Pro364Leu
NM_001282678.2:c.467C>T	NP_001269607.1:p.Pro156Leu