Canonical Allele Identifier: CA161965782

Gene: PEX1

Linked Data

• dbSNP Id: rs965326174
• gnomAD v4: 7-92506502-G-T
• MyVariant Identifiers: chr7:g.92135816G>T (hg19) ; chr7:g.92506502G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506502G>T , CM000669.2:g.92506502G>T	GRCh38
NC_000007.13:g.92135816G>T , CM000669.1:g.92135816G>T	GRCh37
NC_000007.12:g.91973752G>T	NCBI36
NG_008341.1:g.27030C>A
NG_008341.2:g.27030C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-158C>A MANE Select	ENSP00000248633.4:n.1804-158C>A
ENST00000248633.8:c.1804-158C>A	ENSP00000248633.4:n.1804-158C>A
ENST00000422866.1:c.622-158C>A
ENST00000428214.5:c.1804-158C>A	ENSP00000394413.1:n.1804-158C>A
ENST00000438045.5:c.838-158C>A	ENSP00000410438.1:n.838-158C>A
ENST00000484913.5:n.1843-158C>A
ENST00000496420.5:n.1322C>A
NM_000466.2:c.1804-158C>A	NP_000457.1:n.1804-158C>A
NM_001282677.1:c.1804-158C>A	NP_001269606.1:n.1804-158C>A
NM_001282678.1:c.1180-158C>A	NP_001269607.1:n.1180-158C>A
XM_005250433.3:c.55-158C>A	XP_005250490.1:n.55-158C>A
XR_242246.3:n.1900-158C>A
XM_017012319.2:c.55-158C>A	XP_016867808.1:n.55-158C>A
XR_001744808.2:n.831-158C>A
XR_242246.5:n.1851-158C>A
NM_000466.3:c.1804-158C>A MANE Select	NP_000457.1:n.1804-158C>A
NM_001282677.2:c.1804-158C>A	NP_001269606.1:n.1804-158C>A
NM_001282678.2:c.1180-158C>A	NP_001269607.1:n.1180-158C>A