Canonical Allele Identifier: CA368164222

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120731C>T (hg19) ; chr7:g.92491417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491417C>T , CM000669.2:g.92491417C>T	GRCh38
NC_000007.13:g.92120731C>T , CM000669.1:g.92120731C>T	GRCh37
NC_000007.12:g.91958667C>T	NCBI36
NG_008341.1:g.42115G>A
NG_008341.2:g.42115G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3293G>A (PEX1) MANE Select	ENSP00000248633.4:p.Gly1098Glu
ENST00000248633.8:c.3293G>A (PEX1)	ENSP00000248633.4:p.Gly1098Glu
ENST00000428214.5:c.3122G>A (PEX1)	ENSP00000394413.1:p.Gly1041Glu
ENST00000438045.5:c.2327G>A (PEX1)	ENSP00000410438.1:p.Gly776Glu
ENST00000484913.5:n.3332G>A (PEX1)
ENST00000496420.5:n.4348G>A (PEX1)
NM_000466.2:c.3293G>A (PEX1)	NP_000457.1:p.Gly1098Glu
NM_001282677.1:c.3122G>A (PEX1)	NP_001269606.1:p.Gly1041Glu
NM_001282678.1:c.2669G>A (PEX1)	NP_001269607.1:p.Gly890Glu
XM_005250433.3:c.1544G>A (PEX1)	XP_005250490.1:p.Gly515Glu
XR_242246.3:n.3389G>A (PEX1)
XM_017012319.2:c.1544G>A (PEX1)	XP_016867808.1:p.Gly515Glu
XR_001744808.2:n.2320G>A (PEX1)
XR_001744842.2:n.2455C>T (GATAD1)
XR_001744843.2:n.2386C>T (GATAD1)
XR_002956472.1:n.2512C>T (GATAD1)
XR_002956473.1:n.2543C>T (GATAD1)
XR_002956474.1:n.2460C>T (GATAD1)
XR_242246.5:n.3340G>A (PEX1)
XR_927494.3:n.1237C>T (GATAD1)
XR_927500.3:n.1234C>T (GATAD1)
XR_927503.3:n.1168C>T (GATAD1)
NM_000466.3:c.3293G>A (PEX1) MANE Select	NP_000457.1:p.Gly1098Glu
NM_001282677.2:c.3122G>A (PEX1)	NP_001269606.1:p.Gly1041Glu
NM_001282678.2:c.2669G>A (PEX1)	NP_001269607.1:p.Gly890Glu