Canonical Allele Identifier: CA456481449

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 2106162
• ClinVar RCV Id: RCV003045300
• MyVariant Identifiers: chr7:g.92123652C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494338C>T , CM000669.2:g.92494338C>T	GRCh38
NC_000007.13:g.92123652C>T , CM000669.1:g.92123652C>T	GRCh37
NC_000007.12:g.91961588C>T	NCBI36
NG_008341.1:g.39194G>A
NG_008341.2:g.39194G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2985G>A (PEX1) MANE Select	ENSP00000248633.4:p.Arg995=
ENST00000248633.8:c.2985G>A (PEX1)	ENSP00000248633.4:p.Arg995=
ENST00000428214.5:c.2814G>A (PEX1)	ENSP00000394413.1:p.Arg938=
ENST00000438045.5:c.2019G>A (PEX1)	ENSP00000410438.1:p.Arg673=
ENST00000484913.5:n.3024G>A (PEX1)
ENST00000496420.5:n.2877G>A (PEX1)
NM_000466.2:c.2985G>A (PEX1)	NP_000457.1:p.Arg995=
NM_001282677.1:c.2814G>A (PEX1)	NP_001269606.1:p.Arg938=
NM_001282678.1:c.2361G>A (PEX1)	NP_001269607.1:p.Arg787=
XM_005250433.3:c.1236G>A (PEX1)	XP_005250490.1:p.Arg412=
XR_242246.3:n.3081G>A (PEX1)
XM_017012319.2:c.1236G>A (PEX1)	XP_016867808.1:p.Arg412=
XR_001744808.2:n.2012G>A (PEX1)
XR_001744843.2:n.5307C>T (GATAD1)
XR_242246.5:n.3032G>A (PEX1)
XR_927494.3:n.4158C>T (GATAD1)
XR_927503.3:n.4089C>T (GATAD1)
NM_000466.3:c.2985G>A (PEX1) MANE Select	NP_000457.1:p.Arg995=
NM_001282677.2:c.2814G>A (PEX1)	NP_001269606.1:p.Arg938=
NM_001282678.2:c.2361G>A (PEX1)	NP_001269607.1:p.Arg787=