Canonical Allele Identifier: CA368168444

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123836A>T (hg19) ; chr7:g.92494522A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494522A>T , CM000669.2:g.92494522A>T	GRCh38
NC_000007.13:g.92123836A>T , CM000669.1:g.92123836A>T	GRCh37
NC_000007.12:g.91961772A>T	NCBI36
NG_008341.1:g.39010T>A
NG_008341.2:g.39010T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2891T>A (PEX1) MANE Select	ENSP00000248633.4:p.Leu964Ter
ENST00000248633.8:c.2891T>A (PEX1)	ENSP00000248633.4:p.Leu964Ter
ENST00000428214.5:c.2720T>A (PEX1)	ENSP00000394413.1:p.Leu907Ter
ENST00000438045.5:c.1925T>A (PEX1)	ENSP00000410438.1:p.Leu642Ter
ENST00000484913.5:n.2930T>A (PEX1)
ENST00000496420.5:n.2783T>A (PEX1)
NM_000466.2:c.2891T>A (PEX1)	NP_000457.1:p.Leu964Ter
NM_001282677.1:c.2720T>A (PEX1)	NP_001269606.1:p.Leu907Ter
NM_001282678.1:c.2267T>A (PEX1)	NP_001269607.1:p.Leu756Ter
XM_005250433.3:c.1142T>A (PEX1)	XP_005250490.1:p.Leu381Ter
XR_242246.3:n.2987T>A (PEX1)
XM_017012319.2:c.1142T>A (PEX1)	XP_016867808.1:p.Leu381Ter
XR_001744808.2:n.1918T>A (PEX1)
XR_001744843.2:n.5491A>T (GATAD1)
XR_242246.5:n.2938T>A (PEX1)
XR_927494.3:n.4342A>T (GATAD1)
XR_927503.3:n.4273A>T (GATAD1)
NM_000466.3:c.2891T>A (PEX1) MANE Select	NP_000457.1:p.Leu964Ter
NM_001282677.2:c.2720T>A (PEX1)	NP_001269606.1:p.Leu907Ter
NM_001282678.2:c.2267T>A (PEX1)	NP_001269607.1:p.Leu756Ter