Canonical Allele Identifier: CA368170838

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92126031T>G (hg19) ; chr7:g.92496717T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496717T>G , CM000669.2:g.92496717T>G	GRCh38
NC_000007.13:g.92126031T>G , CM000669.1:g.92126031T>G	GRCh37
NC_000007.12:g.91963967T>G	NCBI36
NG_008341.1:g.36815A>C
NG_008341.2:g.36815A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2779A>C MANE Select	ENSP00000248633.4:p.Ile927Leu
ENST00000248633.8:c.2779A>C	ENSP00000248633.4:p.Ile927Leu
ENST00000428214.5:c.2608A>C	ENSP00000394413.1:p.Ile870Leu
ENST00000438045.5:c.1813A>C	ENSP00000410438.1:p.Ile605Leu
ENST00000484913.5:n.2818A>C
ENST00000496420.5:n.2671A>C
NM_000466.2:c.2779A>C	NP_000457.1:p.Ile927Leu
NM_001282677.1:c.2608A>C	NP_001269606.1:p.Ile870Leu
NM_001282678.1:c.2155A>C	NP_001269607.1:p.Ile719Leu
XM_005250433.3:c.1030A>C	XP_005250490.1:p.Ile344Leu
XR_242246.3:n.2875A>C
XM_017012319.2:c.1030A>C	XP_016867808.1:p.Ile344Leu
XR_001744808.2:n.1806A>C
XR_242246.5:n.2826A>C
NM_000466.3:c.2779A>C MANE Select	NP_000457.1:p.Ile927Leu
NM_001282677.2:c.2608A>C	NP_001269606.1:p.Ile870Leu
NM_001282678.2:c.2155A>C	NP_001269607.1:p.Ile719Leu