Canonical Allele Identifier: CA4341318

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507097A>C , CM000669.2:g.92507097A>C	GRCh38
NC_000007.13:g.92136411A>C , CM000669.1:g.92136411A>C	GRCh37
NC_000007.12:g.91974347A>C	NCBI36
NG_008341.1:g.26435T>G
NG_008341.2:g.26435T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.1700T>G MANE Select	NP_000457.1:p.Leu567Trp
ENST00000248633.9:c.1700T>G MANE Select	ENSP00000248633.4:p.Leu567Trp
NM_000466.2:c.1700T>G	NP_000457.1:p.Leu567Trp
NM_001282677.1:c.1700T>G	NP_001269606.1:p.Leu567Trp
NM_001282677.2:c.1700T>G	NP_001269606.1:p.Leu567Trp
NM_001282678.1:c.1076T>G	NP_001269607.1:p.Leu359Trp
NM_001282678.2:c.1076T>G	NP_001269607.1:p.Leu359Trp
ENST00000248633.8:c.1700T>G	ENSP00000248633.4:p.Leu567Trp
ENST00000422866.1:c.518T>G
ENST00000428214.5:c.1700T>G	ENSP00000394413.1:p.Leu567Trp
ENST00000438045.5:c.734T>G	ENSP00000410438.1:p.Leu245Trp
ENST00000484913.5:n.1739T>G
ENST00000496420.5:n.727T>G
XM_005250433.3:c.-50T>G	XP_005250490.1:n.-50T>G
XM_017012319.2:c.-50T>G	XP_016867808.1:n.-50T>G
XR_001744808.2:n.727T>G
XR_242246.3:n.1796T>G
XR_242246.5:n.1747T>G