Canonical Allele Identifier: CA456624387

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120805G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491491G>T , CM000669.2:g.92491491G>T	GRCh38
NC_000007.13:g.92120805G>T , CM000669.1:g.92120805G>T	GRCh37
NC_000007.12:g.91958741G>T	NCBI36
NG_008341.1:g.42041C>A
NG_008341.2:g.42041C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3219C>A (PEX1) MANE Select	ENSP00000248633.4:p.Ser1073=
ENST00000248633.8:c.3219C>A (PEX1)	ENSP00000248633.4:p.Ser1073=
ENST00000428214.5:c.3048C>A (PEX1)	ENSP00000394413.1:p.Ser1016=
ENST00000438045.5:c.2253C>A (PEX1)	ENSP00000410438.1:p.Ser751=
ENST00000484913.5:n.3258C>A (PEX1)
ENST00000496420.5:n.4274C>A (PEX1)
NM_000466.2:c.3219C>A (PEX1)	NP_000457.1:p.Ser1073=
NM_001282677.1:c.3048C>A (PEX1)	NP_001269606.1:p.Ser1016=
NM_001282678.1:c.2595C>A (PEX1)	NP_001269607.1:p.Ser865=
XM_005250433.3:c.1470C>A (PEX1)	XP_005250490.1:p.Ser490=
XR_242246.3:n.3315C>A (PEX1)
XM_017012319.2:c.1470C>A (PEX1)	XP_016867808.1:p.Ser490=
XR_001744808.2:n.2246C>A (PEX1)
XR_001744842.2:n.2529G>T (GATAD1)
XR_001744843.2:n.2460G>T (GATAD1)
XR_002956472.1:n.2586G>T (GATAD1)
XR_002956473.1:n.2617G>T (GATAD1)
XR_002956474.1:n.2534G>T (GATAD1)
XR_242246.5:n.3266C>A (PEX1)
XR_927494.3:n.1311G>T (GATAD1)
XR_927500.3:n.1308G>T (GATAD1)
XR_927503.3:n.1242G>T (GATAD1)
NM_000466.3:c.3219C>A (PEX1) MANE Select	NP_000457.1:p.Ser1073=
NM_001282677.2:c.3048C>A (PEX1)	NP_001269606.1:p.Ser1016=
NM_001282678.2:c.2595C>A (PEX1)	NP_001269607.1:p.Ser865=