Canonical Allele Identifier: CA4341345

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1080931
• ClinVar RCV Id: RCV001396750
• dbSNP Id: rs763624262
• ExAC: 7:92138651 G / A
• gnomAD v2: 7-92138651-G-A
• gnomAD v3: 7-92509337-G-A
• gnomAD v4: 7-92509337-G-A
• MyVariant Identifiers: chr7:g.92138651G>A (hg19) ; chr7:g.92509337G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92509337G>A , CM000669.2:g.92509337G>A	GRCh38
NC_000007.13:g.92138651G>A , CM000669.1:g.92138651G>A	GRCh37
NC_000007.12:g.91976587G>A	NCBI36
NG_008341.1:g.24195C>T
NG_008341.2:g.24195C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1662C>T MANE Select	ENSP00000248633.4:p.Ser554=
ENST00000248633.8:c.1662C>T	ENSP00000248633.4:p.Ser554=
ENST00000422866.1:c.488+1607C>T
ENST00000428214.5:c.1662C>T	ENSP00000394413.1:p.Ser554=
ENST00000438045.5:c.696C>T	ENSP00000410438.1:p.Ser232=
ENST00000484913.5:n.1701C>T
NM_000466.2:c.1662C>T	NP_000457.1:p.Ser554=
NM_001282677.1:c.1662C>T	NP_001269606.1:p.Ser554=
NM_001282678.1:c.1038C>T	NP_001269607.1:p.Ser346=
XM_005250433.3:c.-80+1607C>T	XP_005250490.1:n.-80+1607C>T
XR_242246.3:n.1758C>T
XM_017012319.2:c.-80+1607C>T	XP_016867808.1:n.-80+1607C>T
XR_001744808.2:n.697+1607C>T
XR_242246.5:n.1709C>T
NM_000466.3:c.1662C>T MANE Select	NP_000457.1:p.Ser554=
NM_001282677.2:c.1662C>T	NP_001269606.1:p.Ser554=
NM_001282678.2:c.1038C>T	NP_001269607.1:p.Ser346=