Canonical Allele Identifier: CA576303762

Gene: PEX1

Linked Data

• dbSNP Id: rs1164247394
• gnomAD v2: 7-92126000-C-CT
• gnomAD v4: 7-92496686-C-CT
• MyVariant Identifiers: chr7:g.92126000_92126001insT (hg19) ; chr7:g.92496686_92496687insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496689dup , CM000669.2:g.92496689dup	GRCh38
NC_000007.13:g.92126003dup , CM000669.1:g.92126003dup	GRCh37
NC_000007.12:g.91963939dup	NCBI36
NG_008341.1:g.36845dup
NG_008341.2:g.36845dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2783+26dup MANE Select	ENSP00000248633.4:n.2783+26dup
ENST00000248633.8:c.2783+26dup	ENSP00000248633.4:n.2783+26dup
ENST00000428214.5:c.2612+26dup	ENSP00000394413.1:n.2612+26dup
ENST00000438045.5:c.1817+26dup	ENSP00000410438.1:n.1817+26dup
ENST00000484913.5:n.2822+26dup
ENST00000496420.5:n.2675+26dup
NM_000466.2:c.2783+26dup	NP_000457.1:n.2783+26dup
NM_001282677.1:c.2612+26dup	NP_001269606.1:n.2612+26dup
NM_001282678.1:c.2159+26dup	NP_001269607.1:n.2159+26dup
XM_005250433.3:c.1034+26dup	XP_005250490.1:n.1034+26dup
XR_242246.3:n.2879+26dup
XM_017012319.2:c.1034+26dup	XP_016867808.1:n.1034+26dup
XR_001744808.2:n.1810+26dup
XR_242246.5:n.2830+26dup
NM_000466.3:c.2783+26dup MANE Select	NP_000457.1:n.2783+26dup
NM_001282677.2:c.2612+26dup	NP_001269606.1:n.2612+26dup
NM_001282678.2:c.2159+26dup	NP_001269607.1:n.2159+26dup