Canonical Allele Identifier: CA368167293

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123615G>A (hg19) ; chr7:g.92494301G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494301G>A , CM000669.2:g.92494301G>A	GRCh38
NC_000007.13:g.92123615G>A , CM000669.1:g.92123615G>A	GRCh37
NC_000007.12:g.91961551G>A	NCBI36
NG_008341.1:g.39231C>T
NG_008341.2:g.39231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3022C>T (PEX1) MANE Select	ENSP00000248633.4:p.Pro1008Ser
ENST00000248633.8:c.3022C>T (PEX1)	ENSP00000248633.4:p.Pro1008Ser
ENST00000428214.5:c.2851C>T (PEX1)	ENSP00000394413.1:p.Pro951Ser
ENST00000438045.5:c.2056C>T (PEX1)	ENSP00000410438.1:p.Pro686Ser
ENST00000484913.5:n.3061C>T (PEX1)
ENST00000496420.5:n.2914C>T (PEX1)
NM_000466.2:c.3022C>T (PEX1)	NP_000457.1:p.Pro1008Ser
NM_001282677.1:c.2851C>T (PEX1)	NP_001269606.1:p.Pro951Ser
NM_001282678.1:c.2398C>T (PEX1)	NP_001269607.1:p.Pro800Ser
XM_005250433.3:c.1273C>T (PEX1)	XP_005250490.1:p.Pro425Ser
XR_242246.3:n.3118C>T (PEX1)
XM_017012319.2:c.1273C>T (PEX1)	XP_016867808.1:p.Pro425Ser
XR_001744808.2:n.2049C>T (PEX1)
XR_001744843.2:n.5270G>A (GATAD1)
XR_242246.5:n.3069C>T (PEX1)
XR_927494.3:n.4121G>A (GATAD1)
XR_927503.3:n.4052G>A (GATAD1)
NM_000466.3:c.3022C>T (PEX1) MANE Select	NP_000457.1:p.Pro1008Ser
NM_001282677.2:c.2851C>T (PEX1)	NP_001269606.1:p.Pro951Ser
NM_001282678.2:c.2398C>T (PEX1)	NP_001269607.1:p.Pro800Ser