Canonical Allele Identifier: CA368168457

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1725917
• ClinVar RCV Id: RCV002306888
• MyVariant Identifiers: chr7:g.92123840G>A (hg19) ; chr7:g.92494526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494526G>A , CM000669.2:g.92494526G>A	GRCh38
NC_000007.13:g.92123840G>A , CM000669.1:g.92123840G>A	GRCh37
NC_000007.12:g.91961776G>A	NCBI36
NG_008341.1:g.39006C>T
NG_008341.2:g.39006C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2887C>T (PEX1) MANE Select	ENSP00000248633.4:p.Gln963Ter
ENST00000248633.8:c.2887C>T (PEX1)	ENSP00000248633.4:p.Gln963Ter
ENST00000428214.5:c.2716C>T (PEX1)	ENSP00000394413.1:p.Gln906Ter
ENST00000438045.5:c.1921C>T (PEX1)	ENSP00000410438.1:p.Gln641Ter
ENST00000484913.5:n.2926C>T (PEX1)
ENST00000496420.5:n.2779C>T (PEX1)
NM_000466.2:c.2887C>T (PEX1)	NP_000457.1:p.Gln963Ter
NM_001282677.1:c.2716C>T (PEX1)	NP_001269606.1:p.Gln906Ter
NM_001282678.1:c.2263C>T (PEX1)	NP_001269607.1:p.Gln755Ter
XM_005250433.3:c.1138C>T (PEX1)	XP_005250490.1:p.Gln380Ter
XR_242246.3:n.2983C>T (PEX1)
XM_017012319.2:c.1138C>T (PEX1)	XP_016867808.1:p.Gln380Ter
XR_001744808.2:n.1914C>T (PEX1)
XR_001744843.2:n.5495G>A (GATAD1)
XR_242246.5:n.2934C>T (PEX1)
XR_927494.3:n.4346G>A (GATAD1)
XR_927503.3:n.4277G>A (GATAD1)
NM_000466.3:c.2887C>T (PEX1) MANE Select	NP_000457.1:p.Gln963Ter
NM_001282677.2:c.2716C>T (PEX1)	NP_001269606.1:p.Gln906Ter
NM_001282678.2:c.2263C>T (PEX1)	NP_001269607.1:p.Gln755Ter