Canonical Allele Identifier: CA368167613

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123674A>T (hg19) ; chr7:g.92494360A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494360A>T , CM000669.2:g.92494360A>T	GRCh38
NC_000007.13:g.92123674A>T , CM000669.1:g.92123674A>T	GRCh37
NC_000007.12:g.91961610A>T	NCBI36
NG_008341.1:g.39172T>A
NG_008341.2:g.39172T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2963T>A (PEX1) MANE Select	ENSP00000248633.4:p.Leu988Ter
ENST00000248633.8:c.2963T>A (PEX1)	ENSP00000248633.4:p.Leu988Ter
ENST00000428214.5:c.2792T>A (PEX1)	ENSP00000394413.1:p.Leu931Ter
ENST00000438045.5:c.1997T>A (PEX1)	ENSP00000410438.1:p.Leu666Ter
ENST00000484913.5:n.3002T>A (PEX1)
ENST00000496420.5:n.2855T>A (PEX1)
NM_000466.2:c.2963T>A (PEX1)	NP_000457.1:p.Leu988Ter
NM_001282677.1:c.2792T>A (PEX1)	NP_001269606.1:p.Leu931Ter
NM_001282678.1:c.2339T>A (PEX1)	NP_001269607.1:p.Leu780Ter
XM_005250433.3:c.1214T>A (PEX1)	XP_005250490.1:p.Leu405Ter
XR_242246.3:n.3059T>A (PEX1)
XM_017012319.2:c.1214T>A (PEX1)	XP_016867808.1:p.Leu405Ter
XR_001744808.2:n.1990T>A (PEX1)
XR_001744843.2:n.5329A>T (GATAD1)
XR_242246.5:n.3010T>A (PEX1)
XR_927494.3:n.4180A>T (GATAD1)
XR_927503.3:n.4111A>T (GATAD1)
NM_000466.3:c.2963T>A (PEX1) MANE Select	NP_000457.1:p.Leu988Ter
NM_001282677.2:c.2792T>A (PEX1)	NP_001269606.1:p.Leu931Ter
NM_001282678.2:c.2339T>A (PEX1)	NP_001269607.1:p.Leu780Ter