Canonical Allele Identifier: CA456481991

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92129087A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499773A>C , CM000669.2:g.92499773A>C	GRCh38
NC_000007.13:g.92129087A>C , CM000669.1:g.92129087A>C	GRCh37
NC_000007.12:g.91967023A>C	NCBI36
NG_008341.1:g.33759T>G
NG_008341.2:g.33759T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2649T>G MANE Select	ENSP00000248633.4:p.Pro883=
ENST00000248633.8:c.2649T>G	ENSP00000248633.4:p.Pro883=
ENST00000428214.5:c.2478T>G	ENSP00000394413.1:p.Pro826=
ENST00000438045.5:c.1683T>G	ENSP00000410438.1:p.Pro561=
ENST00000484913.5:n.2688T>G
ENST00000496420.5:n.2541T>G
NM_000466.2:c.2649T>G	NP_000457.1:p.Pro883=
NM_001282677.1:c.2478T>G	NP_001269606.1:p.Pro826=
NM_001282678.1:c.2025T>G	NP_001269607.1:p.Pro675=
XM_005250433.3:c.900T>G	XP_005250490.1:p.Pro300=
XR_242246.3:n.2745T>G
XM_017012319.2:c.900T>G	XP_016867808.1:p.Pro300=
XR_001744808.2:n.1676T>G
XR_242246.5:n.2696T>G
NM_000466.3:c.2649T>G MANE Select	NP_000457.1:p.Pro883=
NM_001282677.2:c.2478T>G	NP_001269606.1:p.Pro826=
NM_001282678.2:c.2025T>G	NP_001269607.1:p.Pro675=