Canonical Allele Identifier: CA368176345

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501647G>A , CM000669.2:g.92501647G>A	GRCh38
NC_000007.13:g.92130961G>A , CM000669.1:g.92130961G>A	GRCh37
NC_000007.12:g.91968897G>A	NCBI36
NG_008341.1:g.31885C>T
NG_008341.2:g.31885C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2443C>T MANE Select	NP_000457.1:p.Gln815Ter
ENST00000248633.9:c.2443C>T MANE Select	ENSP00000248633.4:p.Gln815Ter
NM_000466.2:c.2443C>T	NP_000457.1:p.Gln815Ter
NM_001282677.1:c.2272C>T	NP_001269606.1:p.Gln758Ter
NM_001282677.2:c.2272C>T	NP_001269606.1:p.Gln758Ter
NM_001282678.1:c.1819C>T	NP_001269607.1:p.Gln607Ter
NM_001282678.2:c.1819C>T	NP_001269607.1:p.Gln607Ter
ENST00000248633.8:c.2443C>T	ENSP00000248633.4:p.Gln815Ter
ENST00000428214.5:c.2272C>T	ENSP00000394413.1:p.Gln758Ter
ENST00000438045.5:c.1477C>T	ENSP00000410438.1:p.Gln493Ter
ENST00000484913.5:n.2482C>T
ENST00000496420.5:n.2335C>T
XM_005250433.3:c.694C>T	XP_005250490.1:p.Gln232Ter
XM_017012319.2:c.694C>T	XP_016867808.1:p.Gln232Ter
XR_001744808.2:n.1470C>T
XR_242246.3:n.2539C>T
XR_242246.5:n.2490C>T