Canonical Allele Identifier: CA368163428

Gene: PEX1 GATAD1

Linked Data

• gnomAD v4: 7-92491310-A-G
• MyVariant Identifiers: chr7:g.92120624A>G (hg19) ; chr7:g.92491310A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491310A>G , CM000669.2:g.92491310A>G	GRCh38
NC_000007.13:g.92120624A>G , CM000669.1:g.92120624A>G	GRCh37
NC_000007.12:g.91958560A>G	NCBI36
NG_008341.1:g.42222T>C
NG_008341.2:g.42222T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3400T>C (PEX1) MANE Select	ENSP00000248633.4:p.Tyr1134His
ENST00000248633.8:c.3400T>C (PEX1)	ENSP00000248633.4:p.Tyr1134His
ENST00000428214.5:c.3229T>C (PEX1)	ENSP00000394413.1:p.Tyr1077His
ENST00000438045.5:c.2434T>C (PEX1)	ENSP00000410438.1:p.Tyr812His
ENST00000484913.5:n.3439T>C (PEX1)
ENST00000496420.5:n.4455T>C (PEX1)
NM_000466.2:c.3400T>C (PEX1)	NP_000457.1:p.Tyr1134His
NM_001282677.1:c.3229T>C (PEX1)	NP_001269606.1:p.Tyr1077His
NM_001282678.1:c.2776T>C (PEX1)	NP_001269607.1:p.Tyr926His
XM_005250433.3:c.1651T>C (PEX1)	XP_005250490.1:p.Tyr551His
XR_242246.3:n.3496T>C (PEX1)
XR_927494.1:n.1103A>G (GATAD1)
XR_927496.1:n.1108A>G (GATAD1)
XR_927497.1:n.1160A>G (GATAD1)
XR_927498.1:n.1191A>G (GATAD1)
XR_927500.1:n.1100A>G (GATAD1)
XR_927503.1:n.1034A>G (GATAD1)
XM_017012319.2:c.1651T>C (PEX1)	XP_016867808.1:p.Tyr551His
XR_001744808.2:n.2427T>C (PEX1)
XR_001744842.2:n.2348A>G (GATAD1)
XR_001744843.2:n.2279A>G (GATAD1)
XR_002956472.1:n.2405A>G (GATAD1)
XR_002956473.1:n.2436A>G (GATAD1)
XR_002956474.1:n.2353A>G (GATAD1)
XR_242246.5:n.3447T>C (PEX1)
XR_927494.3:n.1130A>G (GATAD1)
XR_927500.3:n.1127A>G (GATAD1)
XR_927503.3:n.1061A>G (GATAD1)
NM_000466.3:c.3400T>C (PEX1) MANE Select	NP_000457.1:p.Tyr1134His
NM_001282677.2:c.3229T>C (PEX1)	NP_001269606.1:p.Tyr1077His
NM_001282678.2:c.2776T>C (PEX1)	NP_001269607.1:p.Tyr926His