Canonical Allele Identifier: CA368175932

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501611G>A , CM000669.2:g.92501611G>A	GRCh38
NC_000007.13:g.92130925G>A , CM000669.1:g.92130925G>A	GRCh37
NC_000007.12:g.91968861G>A	NCBI36
NG_008341.1:g.31921C>T
NG_008341.2:g.31921C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2479C>T MANE Select	NP_000457.1:p.Arg827Ter
ENST00000248633.9:c.2479C>T MANE Select	ENSP00000248633.4:p.Arg827Ter
NM_000466.2:c.2479C>T	NP_000457.1:p.Arg827Ter
NM_001282677.1:c.2308C>T	NP_001269606.1:p.Arg770Ter
NM_001282677.2:c.2308C>T	NP_001269606.1:p.Arg770Ter
NM_001282678.1:c.1855C>T	NP_001269607.1:p.Arg619Ter
NM_001282678.2:c.1855C>T	NP_001269607.1:p.Arg619Ter
ENST00000248633.8:c.2479C>T	ENSP00000248633.4:p.Arg827Ter
ENST00000428214.5:c.2308C>T	ENSP00000394413.1:p.Arg770Ter
ENST00000438045.5:c.1513C>T	ENSP00000410438.1:p.Arg505Ter
ENST00000484913.5:n.2518C>T
ENST00000496420.5:n.2371C>T
XM_005250433.3:c.730C>T	XP_005250490.1:p.Arg244Ter
XM_017012319.2:c.730C>T	XP_016867808.1:p.Arg244Ter
XR_001744808.2:n.1506C>T
XR_242246.3:n.2575C>T
XR_242246.5:n.2526C>T