Canonical Allele Identifier: CA576305291

Gene: PEX1

Linked Data

• dbSNP Id: rs1254240845
• gnomAD v2: 7-92134239-G-T
• gnomAD v4: 7-92504925-G-T
• MyVariant Identifiers: chr7:g.92134239G>T (hg19) ; chr7:g.92504925G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504925G>T , CM000669.2:g.92504925G>T	GRCh38
NC_000007.13:g.92134239G>T , CM000669.1:g.92134239G>T	GRCh37
NC_000007.12:g.91972175G>T	NCBI36
NG_008341.1:g.28607C>A
NG_008341.2:g.28607C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901-23C>A MANE Select	ENSP00000248633.4:n.1901-23C>A
ENST00000248633.8:c.1901-23C>A	ENSP00000248633.4:n.1901-23C>A
ENST00000422866.1:c.719-23C>A
ENST00000428214.5:c.1900+1323C>A	ENSP00000394413.1:n.1900+1323C>A
ENST00000438045.5:c.935-23C>A	ENSP00000410438.1:n.935-23C>A
ENST00000484913.5:n.1940-23C>A
ENST00000496420.5:n.1577-23C>A
NM_000466.2:c.1901-23C>A	NP_000457.1:n.1901-23C>A
NM_001282677.1:c.1900+1323C>A	NP_001269606.1:n.1900+1323C>A
NM_001282678.1:c.1277-23C>A	NP_001269607.1:n.1277-23C>A
XM_005250433.3:c.152-23C>A	XP_005250490.1:n.152-23C>A
XR_242246.3:n.1997-23C>A
XM_017012319.2:c.152-23C>A	XP_016867808.1:n.152-23C>A
XR_001744808.2:n.928-23C>A
XR_242246.5:n.1948-23C>A
NM_000466.3:c.1901-23C>A MANE Select	NP_000457.1:n.1901-23C>A
NM_001282677.2:c.1900+1323C>A	NP_001269606.1:n.1900+1323C>A
NM_001282678.2:c.1277-23C>A	NP_001269607.1:n.1277-23C>A