Canonical Allele Identifier: CA368164637

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120772C>T (hg19) ; chr7:g.92491458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491458C>T , CM000669.2:g.92491458C>T	GRCh38
NC_000007.13:g.92120772C>T , CM000669.1:g.92120772C>T	GRCh37
NC_000007.12:g.91958708C>T	NCBI36
NG_008341.1:g.42074G>A
NG_008341.2:g.42074G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3252G>A (PEX1) MANE Select	ENSP00000248633.4:p.Met1084Ile
ENST00000248633.8:c.3252G>A (PEX1)	ENSP00000248633.4:p.Met1084Ile
ENST00000428214.5:c.3081G>A (PEX1)	ENSP00000394413.1:p.Met1027Ile
ENST00000438045.5:c.2286G>A (PEX1)	ENSP00000410438.1:p.Met762Ile
ENST00000484913.5:n.3291G>A (PEX1)
ENST00000496420.5:n.4307G>A (PEX1)
NM_000466.2:c.3252G>A (PEX1)	NP_000457.1:p.Met1084Ile
NM_001282677.1:c.3081G>A (PEX1)	NP_001269606.1:p.Met1027Ile
NM_001282678.1:c.2628G>A (PEX1)	NP_001269607.1:p.Met876Ile
XM_005250433.3:c.1503G>A (PEX1)	XP_005250490.1:p.Met501Ile
XR_242246.3:n.3348G>A (PEX1)
XM_017012319.2:c.1503G>A (PEX1)	XP_016867808.1:p.Met501Ile
XR_001744808.2:n.2279G>A (PEX1)
XR_001744842.2:n.2496C>T (GATAD1)
XR_001744843.2:n.2427C>T (GATAD1)
XR_002956472.1:n.2553C>T (GATAD1)
XR_002956473.1:n.2584C>T (GATAD1)
XR_002956474.1:n.2501C>T (GATAD1)
XR_242246.5:n.3299G>A (PEX1)
XR_927494.3:n.1278C>T (GATAD1)
XR_927500.3:n.1275C>T (GATAD1)
XR_927503.3:n.1209C>T (GATAD1)
NM_000466.3:c.3252G>A (PEX1) MANE Select	NP_000457.1:p.Met1084Ile
NM_001282677.2:c.3081G>A (PEX1)	NP_001269606.1:p.Met1027Ile
NM_001282678.2:c.2628G>A (PEX1)	NP_001269607.1:p.Met876Ile