Canonical Allele Identifier: CA4341255

Gene: PEX1

Linked Data

• dbSNP Id: rs771854311
• ExAC: 7:92134200 G / A
• gnomAD v2: 7-92134200-G-A
• gnomAD v4: 7-92504886-G-A
• MyVariant Identifiers: chr7:g.92134200G>A (hg19) ; chr7:g.92504886G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504886G>A , CM000669.2:g.92504886G>A	GRCh38
NC_000007.13:g.92134200G>A , CM000669.1:g.92134200G>A	GRCh37
NC_000007.12:g.91972136G>A	NCBI36
NG_008341.1:g.28646C>T
NG_008341.2:g.28646C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1917C>T MANE Select	ENSP00000248633.4:p.Asn639=
ENST00000248633.8:c.1917C>T	ENSP00000248633.4:p.Asn639=
ENST00000428214.5:c.1900+1362C>T	ENSP00000394413.1:n.1900+1362C>T
ENST00000438045.5:c.951C>T	ENSP00000410438.1:p.Asn317=
ENST00000484913.5:n.1956C>T
ENST00000496420.5:n.1593C>T
NM_000466.2:c.1917C>T	NP_000457.1:p.Asn639=
NM_001282677.1:c.1900+1362C>T	NP_001269606.1:n.1900+1362C>T
NM_001282678.1:c.1293C>T	NP_001269607.1:p.Asn431=
XM_005250433.3:c.168C>T	XP_005250490.1:p.Asn56=
XR_242246.3:n.2013C>T
XM_017012319.2:c.168C>T	XP_016867808.1:p.Asn56=
XR_001744808.2:n.944C>T
XR_242246.5:n.1964C>T
NM_000466.3:c.1917C>T MANE Select	NP_000457.1:p.Asn639=
NM_001282677.2:c.1900+1362C>T	NP_001269606.1:n.1900+1362C>T
NM_001282678.2:c.1293C>T	NP_001269607.1:p.Asn431=