Canonical Allele Identifier: CA368163233

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491271C>A , CM000669.2:g.92491271C>A	GRCh38
NC_000007.13:g.92120585C>A , CM000669.1:g.92120585C>A	GRCh37
NC_000007.12:g.91958521C>A	NCBI36
NG_008341.1:g.42261G>T
NG_008341.2:g.42261G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3438+1G>T (PEX1) MANE Select	NP_000457.1:n.3438+1G>T
ENST00000248633.9:c.3438+1G>T (PEX1) MANE Select	ENSP00000248633.4:n.3438+1G>T
NM_000466.2:c.3438+1G>T (PEX1)	NP_000457.1:n.3438+1G>T
NM_001282677.1:c.3267+1G>T (PEX1)	NP_001269606.1:n.3267+1G>T
NM_001282677.2:c.3267+1G>T (PEX1)	NP_001269606.1:n.3267+1G>T
NM_001282678.1:c.2814+1G>T (PEX1)	NP_001269607.1:n.2814+1G>T
NM_001282678.2:c.2814+1G>T (PEX1)	NP_001269607.1:n.2814+1G>T
ENST00000248633.8:c.3438+1G>T (PEX1)	ENSP00000248633.4:n.3438+1G>T
ENST00000428214.5:c.3267+1G>T (PEX1)	ENSP00000394413.1:n.3267+1G>T
ENST00000438045.5:c.2472+1G>T (PEX1)	ENSP00000410438.1:n.2472+1G>T
ENST00000484913.5:n.3477+1G>T (PEX1)
ENST00000496420.5:n.4493+1G>T (PEX1)
XM_005250433.3:c.1689+1G>T (PEX1)	XP_005250490.1:n.1689+1G>T
XM_017012319.2:c.1689+1G>T (PEX1)	XP_016867808.1:n.1689+1G>T
XR_001744808.2:n.2465+1G>T (PEX1)
XR_001744842.2:n.2309C>A (GATAD1)
XR_001744843.2:n.2240C>A (GATAD1)
XR_002956472.1:n.2366C>A (GATAD1)
XR_002956473.1:n.2397C>A (GATAD1)
XR_002956474.1:n.2314C>A (GATAD1)
XR_242246.3:n.3534+1G>T (PEX1)
XR_242246.5:n.3485+1G>T (PEX1)
XR_927494.1:n.1064C>A (GATAD1)
XR_927494.3:n.1091C>A (GATAD1)
XR_927496.1:n.1069C>A (GATAD1)
XR_927497.1:n.1121C>A (GATAD1)
XR_927498.1:n.1152C>A (GATAD1)
XR_927500.1:n.1061C>A (GATAD1)
XR_927500.3:n.1088C>A (GATAD1)
XR_927503.1:n.995C>A (GATAD1)
XR_927503.3:n.1022C>A (GATAD1)