Canonical Allele Identifier: CA368167368

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123638T>A (hg19) ; chr7:g.92494324T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494324T>A , CM000669.2:g.92494324T>A	GRCh38
NC_000007.13:g.92123638T>A , CM000669.1:g.92123638T>A	GRCh37
NC_000007.12:g.91961574T>A	NCBI36
NG_008341.1:g.39208A>T
NG_008341.2:g.39208A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2999A>T (PEX1) MANE Select	ENSP00000248633.4:p.Asp1000Val
ENST00000248633.8:c.2999A>T (PEX1)	ENSP00000248633.4:p.Asp1000Val
ENST00000428214.5:c.2828A>T (PEX1)	ENSP00000394413.1:p.Asp943Val
ENST00000438045.5:c.2033A>T (PEX1)	ENSP00000410438.1:p.Asp678Val
ENST00000484913.5:n.3038A>T (PEX1)
ENST00000496420.5:n.2891A>T (PEX1)
NM_000466.2:c.2999A>T (PEX1)	NP_000457.1:p.Asp1000Val
NM_001282677.1:c.2828A>T (PEX1)	NP_001269606.1:p.Asp943Val
NM_001282678.1:c.2375A>T (PEX1)	NP_001269607.1:p.Asp792Val
XM_005250433.3:c.1250A>T (PEX1)	XP_005250490.1:p.Asp417Val
XR_242246.3:n.3095A>T (PEX1)
XM_017012319.2:c.1250A>T (PEX1)	XP_016867808.1:p.Asp417Val
XR_001744808.2:n.2026A>T (PEX1)
XR_001744843.2:n.5293T>A (GATAD1)
XR_242246.5:n.3046A>T (PEX1)
XR_927494.3:n.4144T>A (GATAD1)
XR_927503.3:n.4075T>A (GATAD1)
NM_000466.3:c.2999A>T (PEX1) MANE Select	NP_000457.1:p.Asp1000Val
NM_001282677.2:c.2828A>T (PEX1)	NP_001269606.1:p.Asp943Val
NM_001282678.2:c.2375A>T (PEX1)	NP_001269607.1:p.Asp792Val