Canonical Allele Identifier: CA368164187

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1726360
• ClinVar RCV Id: RCV002307331
• MyVariant Identifiers: chr7:g.92120726C>A (hg19) ; chr7:g.92491412C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491412C>A , CM000669.2:g.92491412C>A	GRCh38
NC_000007.13:g.92120726C>A , CM000669.1:g.92120726C>A	GRCh37
NC_000007.12:g.91958662C>A	NCBI36
NG_008341.1:g.42120G>T
NG_008341.2:g.42120G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3298G>T (PEX1) MANE Select	ENSP00000248633.4:p.Gly1100Ter
ENST00000248633.8:c.3298G>T (PEX1)	ENSP00000248633.4:p.Gly1100Ter
ENST00000428214.5:c.3127G>T (PEX1)	ENSP00000394413.1:p.Gly1043Ter
ENST00000438045.5:c.2332G>T (PEX1)	ENSP00000410438.1:p.Gly778Ter
ENST00000484913.5:n.3337G>T (PEX1)
ENST00000496420.5:n.4353G>T (PEX1)
NM_000466.2:c.3298G>T (PEX1)	NP_000457.1:p.Gly1100Ter
NM_001282677.1:c.3127G>T (PEX1)	NP_001269606.1:p.Gly1043Ter
NM_001282678.1:c.2674G>T (PEX1)	NP_001269607.1:p.Gly892Ter
XM_005250433.3:c.1549G>T (PEX1)	XP_005250490.1:p.Gly517Ter
XR_242246.3:n.3394G>T (PEX1)
XM_017012319.2:c.1549G>T (PEX1)	XP_016867808.1:p.Gly517Ter
XR_001744808.2:n.2325G>T (PEX1)
XR_001744842.2:n.2450C>A (GATAD1)
XR_001744843.2:n.2381C>A (GATAD1)
XR_002956472.1:n.2507C>A (GATAD1)
XR_002956473.1:n.2538C>A (GATAD1)
XR_002956474.1:n.2455C>A (GATAD1)
XR_242246.5:n.3345G>T (PEX1)
XR_927494.3:n.1232C>A (GATAD1)
XR_927500.3:n.1229C>A (GATAD1)
XR_927503.3:n.1163C>A (GATAD1)
NM_000466.3:c.3298G>T (PEX1) MANE Select	NP_000457.1:p.Gly1100Ter
NM_001282677.2:c.3127G>T (PEX1)	NP_001269606.1:p.Gly1043Ter
NM_001282678.2:c.2674G>T (PEX1)	NP_001269607.1:p.Gly892Ter