Canonical Allele Identifier: CA368167524

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123663C>A (hg19) ; chr7:g.92494349C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494349C>A , CM000669.2:g.92494349C>A	GRCh38
NC_000007.13:g.92123663C>A , CM000669.1:g.92123663C>A	GRCh37
NC_000007.12:g.91961599C>A	NCBI36
NG_008341.1:g.39183G>T
NG_008341.2:g.39183G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2974G>T (PEX1) MANE Select	ENSP00000248633.4:p.Ala992Ser
ENST00000248633.8:c.2974G>T (PEX1)	ENSP00000248633.4:p.Ala992Ser
ENST00000428214.5:c.2803G>T (PEX1)	ENSP00000394413.1:p.Ala935Ser
ENST00000438045.5:c.2008G>T (PEX1)	ENSP00000410438.1:p.Ala670Ser
ENST00000484913.5:n.3013G>T (PEX1)
ENST00000496420.5:n.2866G>T (PEX1)
NM_000466.2:c.2974G>T (PEX1)	NP_000457.1:p.Ala992Ser
NM_001282677.1:c.2803G>T (PEX1)	NP_001269606.1:p.Ala935Ser
NM_001282678.1:c.2350G>T (PEX1)	NP_001269607.1:p.Ala784Ser
XM_005250433.3:c.1225G>T (PEX1)	XP_005250490.1:p.Ala409Ser
XR_242246.3:n.3070G>T (PEX1)
XM_017012319.2:c.1225G>T (PEX1)	XP_016867808.1:p.Ala409Ser
XR_001744808.2:n.2001G>T (PEX1)
XR_001744843.2:n.5318C>A (GATAD1)
XR_242246.5:n.3021G>T (PEX1)
XR_927494.3:n.4169C>A (GATAD1)
XR_927503.3:n.4100C>A (GATAD1)
NM_000466.3:c.2974G>T (PEX1) MANE Select	NP_000457.1:p.Ala992Ser
NM_001282677.2:c.2803G>T (PEX1)	NP_001269606.1:p.Ala935Ser
NM_001282678.2:c.2350G>T (PEX1)	NP_001269607.1:p.Ala784Ser