Canonical Allele Identifier: CA368167373

Gene: PEX1 GATAD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2999A>C (PEX1) MANE Select	ENSP00000248633.4:p.Asp1000Ala
ENST00000248633.8:c.2999A>C (PEX1)	ENSP00000248633.4:p.Asp1000Ala
ENST00000428214.5:c.2828A>C (PEX1)	ENSP00000394413.1:p.Asp943Ala
ENST00000438045.5:c.2033A>C (PEX1)	ENSP00000410438.1:p.Asp678Ala
ENST00000484913.5:n.3038A>C (PEX1)
ENST00000496420.5:n.2891A>C (PEX1)
NM_000466.2:c.2999A>C (PEX1)	NP_000457.1:p.Asp1000Ala
NM_001282677.1:c.2828A>C (PEX1)	NP_001269606.1:p.Asp943Ala
NM_001282678.1:c.2375A>C (PEX1)	NP_001269607.1:p.Asp792Ala
XM_005250433.3:c.1250A>C (PEX1)	XP_005250490.1:p.Asp417Ala
XR_242246.3:n.3095A>C (PEX1)
XM_017012319.2:c.1250A>C (PEX1)	XP_016867808.1:p.Asp417Ala
XR_001744808.2:n.2026A>C (PEX1)
XR_001744843.2:n.5293T>G (GATAD1)
XR_242246.5:n.3046A>C (PEX1)
XR_927494.3:n.4144T>G (GATAD1)
XR_927503.3:n.4075T>G (GATAD1)
NM_000466.3:c.2999A>C (PEX1) MANE Select	NP_000457.1:p.Asp1000Ala
NM_001282677.2:c.2828A>C (PEX1)	NP_001269606.1:p.Asp943Ala
NM_001282678.2:c.2375A>C (PEX1)	NP_001269607.1:p.Asp792Ala