Canonical Allele Identifier: CA368203182

Gene: PEX1

Linked Data

• gnomAD v4: 7-92519048-A-T
• MyVariant Identifiers: chr7:g.92148362A>T (hg19) ; chr7:g.92519048A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519048A>T , CM000669.2:g.92519048A>T	GRCh38
NC_000007.13:g.92148362A>T , CM000669.1:g.92148362A>T	GRCh37
NC_000007.12:g.91986298A>T	NCBI36
NG_008341.1:g.14484T>A
NG_008341.2:g.14484T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.304T>A MANE Select	ENSP00000248633.4:p.Ser102Thr
ENST00000248633.8:c.304T>A	ENSP00000248633.4:p.Ser102Thr
ENST00000428214.5:c.304T>A	ENSP00000394413.1:p.Ser102Thr
ENST00000438045.5:c.273+3054T>A	ENSP00000410438.1:n.273+3054T>A
ENST00000484913.5:n.308T>A
NM_000466.2:c.304T>A	NP_000457.1:p.Ser102Thr
NM_001282677.1:c.304T>A	NP_001269606.1:p.Ser102Thr
NM_001282678.1:c.-356T>A	NP_001269607.1:n.-356T>A
XR_242246.3:n.400T>A
XR_242246.5:n.351T>A
NM_000466.3:c.304T>A MANE Select	NP_000457.1:p.Ser102Thr
NM_001282677.2:c.304T>A	NP_001269606.1:p.Ser102Thr
NM_001282678.2:c.-356T>A	NP_001269607.1:n.-356T>A