Canonical Allele Identifier: CA368175312

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501562C>G , CM000669.2:g.92501562C>G	GRCh38
NC_000007.13:g.92130876C>G , CM000669.1:g.92130876C>G	GRCh37
NC_000007.12:g.91968812C>G	NCBI36
NG_008341.1:g.31970G>C
NG_008341.2:g.31970G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2528G>C MANE Select	NP_000457.1:p.Gly843Ala
ENST00000248633.9:c.2528G>C MANE Select	ENSP00000248633.4:p.Gly843Ala
NM_000466.2:c.2528G>C	NP_000457.1:p.Gly843Ala
NM_001282677.1:c.2357G>C	NP_001269606.1:p.Gly786Ala
NM_001282677.2:c.2357G>C	NP_001269606.1:p.Gly786Ala
NM_001282678.1:c.1904G>C	NP_001269607.1:p.Gly635Ala
NM_001282678.2:c.1904G>C	NP_001269607.1:p.Gly635Ala
ENST00000248633.8:c.2528G>C	ENSP00000248633.4:p.Gly843Ala
ENST00000428214.5:c.2357G>C	ENSP00000394413.1:p.Gly786Ala
ENST00000438045.5:c.1562G>C	ENSP00000410438.1:p.Gly521Ala
ENST00000484913.5:n.2567G>C
ENST00000496420.5:n.2420G>C
XM_005250433.3:c.779G>C	XP_005250490.1:p.Gly260Ala
XM_017012319.2:c.779G>C	XP_016867808.1:p.Gly260Ala
XR_001744808.2:n.1555G>C
XR_242246.3:n.2624G>C
XR_242246.5:n.2575G>C