Canonical Allele Identifier: CA368167422

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92123648C>A (hg19) ; chr7:g.92494334C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494334C>A , CM000669.2:g.92494334C>A	GRCh38
NC_000007.13:g.92123648C>A , CM000669.1:g.92123648C>A	GRCh37
NC_000007.12:g.91961584C>A	NCBI36
NG_008341.1:g.39198G>T
NG_008341.2:g.39198G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2989G>T (PEX1) MANE Select	ENSP00000248633.4:p.Gly997Cys
ENST00000248633.8:c.2989G>T (PEX1)	ENSP00000248633.4:p.Gly997Cys
ENST00000428214.5:c.2818G>T (PEX1)	ENSP00000394413.1:p.Gly940Cys
ENST00000438045.5:c.2023G>T (PEX1)	ENSP00000410438.1:p.Gly675Cys
ENST00000484913.5:n.3028G>T (PEX1)
ENST00000496420.5:n.2881G>T (PEX1)
NM_000466.2:c.2989G>T (PEX1)	NP_000457.1:p.Gly997Cys
NM_001282677.1:c.2818G>T (PEX1)	NP_001269606.1:p.Gly940Cys
NM_001282678.1:c.2365G>T (PEX1)	NP_001269607.1:p.Gly789Cys
XM_005250433.3:c.1240G>T (PEX1)	XP_005250490.1:p.Gly414Cys
XR_242246.3:n.3085G>T (PEX1)
XM_017012319.2:c.1240G>T (PEX1)	XP_016867808.1:p.Gly414Cys
XR_001744808.2:n.2016G>T (PEX1)
XR_001744843.2:n.5303C>A (GATAD1)
XR_242246.5:n.3036G>T (PEX1)
XR_927494.3:n.4154C>A (GATAD1)
XR_927503.3:n.4085C>A (GATAD1)
NM_000466.3:c.2989G>T (PEX1) MANE Select	NP_000457.1:p.Gly997Cys
NM_001282677.2:c.2818G>T (PEX1)	NP_001269606.1:p.Gly940Cys
NM_001282678.2:c.2365G>T (PEX1)	NP_001269607.1:p.Gly789Cys