Canonical Allele Identifier: CA161954270

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92492952C>G , CM000669.2:g.92492952C>G	GRCh38
NC_000007.13:g.92122266C>G , CM000669.1:g.92122266C>G	GRCh37
NC_000007.12:g.91960202C>G	NCBI36
NG_008341.1:g.40580G>C
NG_008341.2:g.40580G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.3207+1G>C (PEX1) MANE Select	NP_000457.1:n.3207+1G>C
ENST00000248633.9:c.3207+1G>C (PEX1) MANE Select	ENSP00000248633.4:n.3207+1G>C
NM_000466.2:c.3207+1G>C (PEX1)	NP_000457.1:n.3207+1G>C
NM_001282677.1:c.3036+1G>C (PEX1)	NP_001269606.1:n.3036+1G>C
NM_001282677.2:c.3036+1G>C (PEX1)	NP_001269606.1:n.3036+1G>C
NM_001282678.1:c.2583+1G>C (PEX1)	NP_001269607.1:n.2583+1G>C
NM_001282678.2:c.2583+1G>C (PEX1)	NP_001269607.1:n.2583+1G>C
ENST00000248633.8:c.3207+1G>C (PEX1)	ENSP00000248633.4:n.3207+1G>C
ENST00000428214.5:c.3036+1G>C (PEX1)	ENSP00000394413.1:n.3036+1G>C
ENST00000438045.5:c.2241+1G>C (PEX1)	ENSP00000410438.1:n.2241+1G>C
ENST00000484913.5:n.3246+1G>C (PEX1)
ENST00000496420.5:n.4262+1G>C (PEX1)
XM_005250433.3:c.1458+1G>C (PEX1)	XP_005250490.1:n.1458+1G>C
XM_017012319.2:c.1458+1G>C (PEX1)	XP_016867808.1:n.1458+1G>C
XR_001744808.2:n.2234+1G>C (PEX1)
XR_001744842.2:n.3990C>G (GATAD1)
XR_001744843.2:n.3921C>G (GATAD1)
XR_002956472.1:n.4047C>G (GATAD1)
XR_002956473.1:n.4078C>G (GATAD1)
XR_002956474.1:n.3995C>G (GATAD1)
XR_242246.3:n.3303+1G>C (PEX1)
XR_242246.5:n.3254+1G>C (PEX1)
XR_927494.3:n.2772C>G (GATAD1)
XR_927500.3:n.2769C>G (GATAD1)
XR_927503.3:n.2703C>G (GATAD1)