Canonical Allele Identifier: CA456623530

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146593G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517279G>T , CM000669.2:g.92517279G>T	GRCh38
NC_000007.13:g.92146593G>T , CM000669.1:g.92146593G>T	GRCh37
NC_000007.12:g.91984529G>T	NCBI36
NG_008341.1:g.16253C>A
NG_008341.2:g.16253C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1236C>A MANE Select	ENSP00000248633.4:p.Val412=
ENST00000248633.8:c.1236C>A	ENSP00000248633.4:p.Val412=
ENST00000422866.1:c.137C>A
ENST00000428214.5:c.1236C>A	ENSP00000394413.1:p.Val412=
ENST00000438045.5:c.274-3312C>A	ENSP00000410438.1:n.274-3312C>A
ENST00000484913.5:n.1275C>A
NM_000466.2:c.1236C>A	NP_000457.1:p.Val412=
NM_001282677.1:c.1236C>A	NP_001269606.1:p.Val412=
NM_001282678.1:c.612C>A	NP_001269607.1:p.Val204=
XR_242246.3:n.1332C>A
XM_017012319.2:c.-431C>A	XP_016867808.1:n.-431C>A
XR_001744808.2:n.346C>A
XR_242246.5:n.1283C>A
NM_000466.3:c.1236C>A MANE Select	NP_000457.1:p.Val412=
NM_001282677.2:c.1236C>A	NP_001269606.1:p.Val412=
NM_001282678.2:c.612C>A	NP_001269607.1:p.Val204=