Canonical Allele Identifier: CA368163570

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491325-A-G
• MyVariant Identifiers: chr7:g.92120639A>G (hg19) ; chr7:g.92491325A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491325A>G , CM000669.2:g.92491325A>G	GRCh38
NC_000007.13:g.92120639A>G , CM000669.1:g.92120639A>G	GRCh37
NC_000007.12:g.91958575A>G	NCBI36
NG_008341.1:g.42207T>C
NG_008341.2:g.42207T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3385T>C (PEX1) MANE Select	ENSP00000248633.4:p.Tyr1129His
ENST00000248633.8:c.3385T>C (PEX1)	ENSP00000248633.4:p.Tyr1129His
ENST00000428214.5:c.3214T>C (PEX1)	ENSP00000394413.1:p.Tyr1072His
ENST00000438045.5:c.2419T>C (PEX1)	ENSP00000410438.1:p.Tyr807His
ENST00000484913.5:n.3424T>C (PEX1)
ENST00000496420.5:n.4440T>C (PEX1)
NM_000466.2:c.3385T>C (PEX1)	NP_000457.1:p.Tyr1129His
NM_001282677.1:c.3214T>C (PEX1)	NP_001269606.1:p.Tyr1072His
NM_001282678.1:c.2761T>C (PEX1)	NP_001269607.1:p.Tyr921His
XM_005250433.3:c.1636T>C (PEX1)	XP_005250490.1:p.Tyr546His
XR_242246.3:n.3481T>C (PEX1)
XR_927497.1:n.1175A>G (GATAD1)
XM_017012319.2:c.1636T>C (PEX1)	XP_016867808.1:p.Tyr546His
XR_001744808.2:n.2412T>C (PEX1)
XR_001744842.2:n.2363A>G (GATAD1)
XR_001744843.2:n.2294A>G (GATAD1)
XR_002956472.1:n.2420A>G (GATAD1)
XR_002956473.1:n.2451A>G (GATAD1)
XR_002956474.1:n.2368A>G (GATAD1)
XR_242246.5:n.3432T>C (PEX1)
XR_927494.3:n.1145A>G (GATAD1)
XR_927500.3:n.1142A>G (GATAD1)
XR_927503.3:n.1076A>G (GATAD1)
NM_000466.3:c.3385T>C (PEX1) MANE Select	NP_000457.1:p.Tyr1129His
NM_001282677.2:c.3214T>C (PEX1)	NP_001269606.1:p.Tyr1072His
NM_001282678.2:c.2761T>C (PEX1)	NP_001269607.1:p.Tyr921His