Canonical Allele Identifier: CA456481731

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92126035A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496721A>G , CM000669.2:g.92496721A>G	GRCh38
NC_000007.13:g.92126035A>G , CM000669.1:g.92126035A>G	GRCh37
NC_000007.12:g.91963971A>G	NCBI36
NG_008341.1:g.36811T>C
NG_008341.2:g.36811T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2775T>C MANE Select	ENSP00000248633.4:p.Ile925=
ENST00000248633.8:c.2775T>C	ENSP00000248633.4:p.Ile925=
ENST00000428214.5:c.2604T>C	ENSP00000394413.1:p.Ile868=
ENST00000438045.5:c.1809T>C	ENSP00000410438.1:p.Ile603=
ENST00000484913.5:n.2814T>C
ENST00000496420.5:n.2667T>C
NM_000466.2:c.2775T>C	NP_000457.1:p.Ile925=
NM_001282677.1:c.2604T>C	NP_001269606.1:p.Ile868=
NM_001282678.1:c.2151T>C	NP_001269607.1:p.Ile717=
XM_005250433.3:c.1026T>C	XP_005250490.1:p.Ile342=
XR_242246.3:n.2871T>C
XM_017012319.2:c.1026T>C	XP_016867808.1:p.Ile342=
XR_001744808.2:n.1802T>C
XR_242246.5:n.2822T>C
NM_000466.3:c.2775T>C MANE Select	NP_000457.1:p.Ile925=
NM_001282677.2:c.2604T>C	NP_001269606.1:p.Ile868=
NM_001282678.2:c.2151T>C	NP_001269607.1:p.Ile717=