Canonical Allele Identifier: CA368168371

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1455837305
• gnomAD v4: 7-92494514-G-T
• MyVariant Identifiers: chr7:g.92123828G>T (hg19) ; chr7:g.92494514G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494514G>T , CM000669.2:g.92494514G>T	GRCh38
NC_000007.13:g.92123828G>T , CM000669.1:g.92123828G>T	GRCh37
NC_000007.12:g.91961764G>T	NCBI36
NG_008341.1:g.39018C>A
NG_008341.2:g.39018C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2899C>A (PEX1) MANE Select	ENSP00000248633.4:p.Gln967Lys
ENST00000248633.8:c.2899C>A (PEX1)	ENSP00000248633.4:p.Gln967Lys
ENST00000428214.5:c.2728C>A (PEX1)	ENSP00000394413.1:p.Gln910Lys
ENST00000438045.5:c.1933C>A (PEX1)	ENSP00000410438.1:p.Gln645Lys
ENST00000484913.5:n.2938C>A (PEX1)
ENST00000496420.5:n.2791C>A (PEX1)
NM_000466.2:c.2899C>A (PEX1)	NP_000457.1:p.Gln967Lys
NM_001282677.1:c.2728C>A (PEX1)	NP_001269606.1:p.Gln910Lys
NM_001282678.1:c.2275C>A (PEX1)	NP_001269607.1:p.Gln759Lys
XM_005250433.3:c.1150C>A (PEX1)	XP_005250490.1:p.Gln384Lys
XR_242246.3:n.2995C>A (PEX1)
XM_017012319.2:c.1150C>A (PEX1)	XP_016867808.1:p.Gln384Lys
XR_001744808.2:n.1926C>A (PEX1)
XR_001744843.2:n.5483G>T (GATAD1)
XR_242246.5:n.2946C>A (PEX1)
XR_927494.3:n.4334G>T (GATAD1)
XR_927503.3:n.4265G>T (GATAD1)
NM_000466.3:c.2899C>A (PEX1) MANE Select	NP_000457.1:p.Gln967Lys
NM_001282677.2:c.2728C>A (PEX1)	NP_001269606.1:p.Gln910Lys
NM_001282678.2:c.2275C>A (PEX1)	NP_001269607.1:p.Gln759Lys