Canonical Allele Identifier: CA1725935180

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499782A= , CM000669.2:g.92499782A=	GRCh38
NC_000007.13:g.92129096A= , CM000669.1:g.92129096A=	GRCh37
NC_000007.12:g.91967032A=	NCBI36
NG_008341.1:g.33750T=
NG_008341.2:g.33750T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2640T= MANE Select	ENSP00000248633.4:p.Tyr880=
ENST00000248633.8:c.2640T=	ENSP00000248633.4:p.Tyr880=
ENST00000428214.5:c.2469T=	ENSP00000394413.1:p.Tyr823=
ENST00000438045.5:c.1674T=	ENSP00000410438.1:p.Tyr558=
ENST00000484913.5:n.2679T=
ENST00000496420.5:n.2532T=
NM_000466.2:c.2640T=	NP_000457.1:p.Tyr880=
NM_001282677.1:c.2469T=	NP_001269606.1:p.Tyr823=
NM_001282678.1:c.2016T=	NP_001269607.1:p.Tyr672=
XM_005250433.3:c.891T=	XP_005250490.1:p.Tyr297=
XR_242246.3:n.2736T=
XM_017012319.2:c.891T=	XP_016867808.1:p.Tyr297=
XR_001744808.2:n.1667T=
XR_242246.5:n.2687T=
NM_000466.3:c.2640T= MANE Select	NP_000457.1:p.Tyr880=
NM_001282677.2:c.2469T=	NP_001269606.1:p.Tyr823=
NM_001282678.2:c.2016T=	NP_001269607.1:p.Tyr672=