Canonical Allele Identifier: CA161955700

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs149291566
• gnomAD v4: 7-92494516-G-A
• MyVariant Identifiers: chr7:g.92123830G>A (hg19) ; chr7:g.92494516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494516G>A , CM000669.2:g.92494516G>A	GRCh38
NC_000007.13:g.92123830G>A , CM000669.1:g.92123830G>A	GRCh37
NC_000007.12:g.91961766G>A	NCBI36
NG_008341.1:g.39016C>T
NG_008341.2:g.39016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2897C>T (PEX1) MANE Select	ENSP00000248633.4:p.Thr966Ile
ENST00000248633.8:c.2897C>T (PEX1)	ENSP00000248633.4:p.Thr966Ile
ENST00000428214.5:c.2726C>T (PEX1)	ENSP00000394413.1:p.Thr909Ile
ENST00000438045.5:c.1931C>T (PEX1)	ENSP00000410438.1:p.Thr644Ile
ENST00000484913.5:n.2936C>T (PEX1)
ENST00000496420.5:n.2789C>T (PEX1)
NM_000466.2:c.2897C>T (PEX1)	NP_000457.1:p.Thr966Ile
NM_001282677.1:c.2726C>T (PEX1)	NP_001269606.1:p.Thr909Ile
NM_001282678.1:c.2273C>T (PEX1)	NP_001269607.1:p.Thr758Ile
XM_005250433.3:c.1148C>T (PEX1)	XP_005250490.1:p.Thr383Ile
XR_242246.3:n.2993C>T (PEX1)
XM_017012319.2:c.1148C>T (PEX1)	XP_016867808.1:p.Thr383Ile
XR_001744808.2:n.1924C>T (PEX1)
XR_001744843.2:n.5485G>A (GATAD1)
XR_242246.5:n.2944C>T (PEX1)
XR_927494.3:n.4336G>A (GATAD1)
XR_927503.3:n.4267G>A (GATAD1)
NM_000466.3:c.2897C>T (PEX1) MANE Select	NP_000457.1:p.Thr966Ile
NM_001282677.2:c.2726C>T (PEX1)	NP_001269606.1:p.Thr909Ile
NM_001282678.2:c.2273C>T (PEX1)	NP_001269607.1:p.Thr758Ile