Canonical Allele Identifier: CA456481723

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92126028T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496714T>G , CM000669.2:g.92496714T>G	GRCh38
NC_000007.13:g.92126028T>G , CM000669.1:g.92126028T>G	GRCh37
NC_000007.12:g.91963964T>G	NCBI36
NG_008341.1:g.36818A>C
NG_008341.2:g.36818A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2782A>C MANE Select	ENSP00000248633.4:p.Arg928=
ENST00000248633.8:c.2782A>C	ENSP00000248633.4:p.Arg928=
ENST00000428214.5:c.2611A>C	ENSP00000394413.1:p.Arg871=
ENST00000438045.5:c.1816A>C	ENSP00000410438.1:p.Arg606=
ENST00000484913.5:n.2821A>C
ENST00000496420.5:n.2674A>C
NM_000466.2:c.2782A>C	NP_000457.1:p.Arg928=
NM_001282677.1:c.2611A>C	NP_001269606.1:p.Arg871=
NM_001282678.1:c.2158A>C	NP_001269607.1:p.Arg720=
XM_005250433.3:c.1033A>C	XP_005250490.1:p.Arg345=
XR_242246.3:n.2878A>C
XM_017012319.2:c.1033A>C	XP_016867808.1:p.Arg345=
XR_001744808.2:n.1809A>C
XR_242246.5:n.2829A>C
NM_000466.3:c.2782A>C MANE Select	NP_000457.1:p.Arg928=
NM_001282677.2:c.2611A>C	NP_001269606.1:p.Arg871=
NM_001282678.2:c.2158A>C	NP_001269607.1:p.Arg720=