Canonical Allele Identifier: CA161974145

Gene: PEX1

Linked Data

• dbSNP Id: rs747529442
• gnomAD v4: 7-92518219-C-A
• MyVariant Identifiers: chr7:g.92147533C>A (hg19) ; chr7:g.92518219C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518219C>A , CM000669.2:g.92518219C>A	GRCh38
NC_000007.13:g.92147533C>A , CM000669.1:g.92147533C>A	GRCh37
NC_000007.12:g.91985469C>A	NCBI36
NG_008341.1:g.15313G>T
NG_008341.2:g.15313G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.394G>T MANE Select	ENSP00000248633.4:p.Asp132Tyr
ENST00000248633.8:c.394G>T	ENSP00000248633.4:p.Asp132Tyr
ENST00000428214.5:c.394G>T	ENSP00000394413.1:p.Asp132Tyr
ENST00000438045.5:c.273+3883G>T	ENSP00000410438.1:n.273+3883G>T
ENST00000484913.5:n.433G>T
NM_000466.2:c.394G>T	NP_000457.1:p.Asp132Tyr
NM_001282677.1:c.394G>T	NP_001269606.1:p.Asp132Tyr
NM_001282678.1:c.-231G>T	NP_001269607.1:n.-231G>T
XR_242246.3:n.490G>T
XR_242246.5:n.441G>T
NM_000466.3:c.394G>T MANE Select	NP_000457.1:p.Asp132Tyr
NM_001282677.2:c.394G>T	NP_001269606.1:p.Asp132Tyr
NM_001282678.2:c.-231G>T	NP_001269607.1:n.-231G>T