Canonical Allele Identifier: CA368167684

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123686C>A (hg19) ; chr7:g.92494372C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494372C>A , CM000669.2:g.92494372C>A	GRCh38
NC_000007.13:g.92123686C>A , CM000669.1:g.92123686C>A	GRCh37
NC_000007.12:g.91961622C>A	NCBI36
NG_008341.1:g.39160G>T
NG_008341.2:g.39160G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2951G>T (PEX1) MANE Select	ENSP00000248633.4:p.Ser984Ile
ENST00000248633.8:c.2951G>T (PEX1)	ENSP00000248633.4:p.Ser984Ile
ENST00000428214.5:c.2780G>T (PEX1)	ENSP00000394413.1:p.Ser927Ile
ENST00000438045.5:c.1985G>T (PEX1)	ENSP00000410438.1:p.Ser662Ile
ENST00000484913.5:n.2990G>T (PEX1)
ENST00000496420.5:n.2843G>T (PEX1)
NM_000466.2:c.2951G>T (PEX1)	NP_000457.1:p.Ser984Ile
NM_001282677.1:c.2780G>T (PEX1)	NP_001269606.1:p.Ser927Ile
NM_001282678.1:c.2327G>T (PEX1)	NP_001269607.1:p.Ser776Ile
XM_005250433.3:c.1202G>T (PEX1)	XP_005250490.1:p.Ser401Ile
XR_242246.3:n.3047G>T (PEX1)
XM_017012319.2:c.1202G>T (PEX1)	XP_016867808.1:p.Ser401Ile
XR_001744808.2:n.1978G>T (PEX1)
XR_001744843.2:n.5341C>A (GATAD1)
XR_242246.5:n.2998G>T (PEX1)
XR_927494.3:n.4192C>A (GATAD1)
XR_927503.3:n.4123C>A (GATAD1)
NM_000466.3:c.2951G>T (PEX1) MANE Select	NP_000457.1:p.Ser984Ile
NM_001282677.2:c.2780G>T (PEX1)	NP_001269606.1:p.Ser927Ile
NM_001282678.2:c.2327G>T (PEX1)	NP_001269607.1:p.Ser776Ile