Canonical Allele Identifier: CA456624103

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120715G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491401G>T , CM000669.2:g.92491401G>T	GRCh38
NC_000007.13:g.92120715G>T , CM000669.1:g.92120715G>T	GRCh37
NC_000007.12:g.91958651G>T	NCBI36
NG_008341.1:g.42131C>A
NG_008341.2:g.42131C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3309C>A (PEX1) MANE Select	ENSP00000248633.4:p.Gly1103=
ENST00000248633.8:c.3309C>A (PEX1)	ENSP00000248633.4:p.Gly1103=
ENST00000428214.5:c.3138C>A (PEX1)	ENSP00000394413.1:p.Gly1046=
ENST00000438045.5:c.2343C>A (PEX1)	ENSP00000410438.1:p.Gly781=
ENST00000484913.5:n.3348C>A (PEX1)
ENST00000496420.5:n.4364C>A (PEX1)
NM_000466.2:c.3309C>A (PEX1)	NP_000457.1:p.Gly1103=
NM_001282677.1:c.3138C>A (PEX1)	NP_001269606.1:p.Gly1046=
NM_001282678.1:c.2685C>A (PEX1)	NP_001269607.1:p.Gly895=
XM_005250433.3:c.1560C>A (PEX1)	XP_005250490.1:p.Gly520=
XR_242246.3:n.3405C>A (PEX1)
XM_017012319.2:c.1560C>A (PEX1)	XP_016867808.1:p.Gly520=
XR_001744808.2:n.2336C>A (PEX1)
XR_001744842.2:n.2439G>T (GATAD1)
XR_001744843.2:n.2370G>T (GATAD1)
XR_002956472.1:n.2496G>T (GATAD1)
XR_002956473.1:n.2527G>T (GATAD1)
XR_002956474.1:n.2444G>T (GATAD1)
XR_242246.5:n.3356C>A (PEX1)
XR_927494.3:n.1221G>T (GATAD1)
XR_927500.3:n.1218G>T (GATAD1)
XR_927503.3:n.1152G>T (GATAD1)
NM_000466.3:c.3309C>A (PEX1) MANE Select	NP_000457.1:p.Gly1103=
NM_001282677.2:c.3138C>A (PEX1)	NP_001269606.1:p.Gly1046=
NM_001282678.2:c.2685C>A (PEX1)	NP_001269607.1:p.Gly895=