Canonical Allele Identifier: CA4341242

Gene: PEX1

Linked Data

• dbSNP Id: rs750642526
• ExAC: 7:92134106 G / A
• gnomAD v2: 7-92134106-G-A
• gnomAD v4: 7-92504792-G-A
• MyVariant Identifiers: chr7:g.92134106G>A (hg19) ; chr7:g.92504792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504792G>A , CM000669.2:g.92504792G>A	GRCh38
NC_000007.13:g.92134106G>A , CM000669.1:g.92134106G>A	GRCh37
NC_000007.12:g.91972042G>A	NCBI36
NG_008341.1:g.28740C>T
NG_008341.2:g.28740C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2011C>T MANE Select	ENSP00000248633.4:p.Pro671Ser
ENST00000248633.8:c.2011C>T	ENSP00000248633.4:p.Pro671Ser
ENST00000428214.5:c.1900+1456C>T	ENSP00000394413.1:n.1900+1456C>T
ENST00000438045.5:c.1045C>T	ENSP00000410438.1:p.Pro349Ser
ENST00000484913.5:n.2050C>T
ENST00000496420.5:n.1687C>T
NM_000466.2:c.2011C>T	NP_000457.1:p.Pro671Ser
NM_001282677.1:c.1900+1456C>T	NP_001269606.1:n.1900+1456C>T
NM_001282678.1:c.1387C>T	NP_001269607.1:p.Pro463Ser
XM_005250433.3:c.262C>T	XP_005250490.1:p.Pro88Ser
XR_242246.3:n.2107C>T
XM_017012319.2:c.262C>T	XP_016867808.1:p.Pro88Ser
XR_001744808.2:n.1038C>T
XR_242246.5:n.2058C>T
NM_000466.3:c.2011C>T MANE Select	NP_000457.1:p.Pro671Ser
NM_001282677.2:c.1900+1456C>T	NP_001269606.1:n.1900+1456C>T
NM_001282678.2:c.1387C>T	NP_001269607.1:p.Pro463Ser