Canonical Allele Identifier: CA368181691

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503121G>A , CM000669.2:g.92503121G>A	GRCh38
NC_000007.13:g.92132435G>A , CM000669.1:g.92132435G>A	GRCh37
NC_000007.12:g.91970371G>A	NCBI36
NG_008341.1:g.30411C>T
NG_008341.2:g.30411C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2146C>T MANE Select	NP_000457.1:p.Gln716Ter
ENST00000248633.9:c.2146C>T MANE Select	ENSP00000248633.4:p.Gln716Ter
NM_000466.2:c.2146C>T	NP_000457.1:p.Gln716Ter
NM_001282677.1:c.1975C>T	NP_001269606.1:p.Gln659Ter
NM_001282677.2:c.1975C>T	NP_001269606.1:p.Gln659Ter
NM_001282678.1:c.1522C>T	NP_001269607.1:p.Gln508Ter
NM_001282678.2:c.1522C>T	NP_001269607.1:p.Gln508Ter
ENST00000248633.8:c.2146C>T	ENSP00000248633.4:p.Gln716Ter
ENST00000428214.5:c.1975C>T	ENSP00000394413.1:p.Gln659Ter
ENST00000438045.5:c.1180C>T	ENSP00000410438.1:p.Gln394Ter
ENST00000484913.5:n.2185C>T
ENST00000496420.5:n.1822C>T
XM_005250433.3:c.397C>T	XP_005250490.1:p.Gln133Ter
XM_017012319.2:c.397C>T	XP_016867808.1:p.Gln133Ter
XR_001744808.2:n.1173C>T
XR_242246.3:n.2242C>T
XR_242246.5:n.2193C>T