Canonical Allele Identifier: CA368171164

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496761-C-T
• MyVariant Identifiers: chr7:g.92126075C>T (hg19) ; chr7:g.92496761C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496761C>T , CM000669.2:g.92496761C>T	GRCh38
NC_000007.13:g.92126075C>T , CM000669.1:g.92126075C>T	GRCh37
NC_000007.12:g.91964011C>T	NCBI36
NG_008341.1:g.36771G>A
NG_008341.2:g.36771G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2735G>A MANE Select	ENSP00000248633.4:p.Ser912Asn
ENST00000248633.8:c.2735G>A	ENSP00000248633.4:p.Ser912Asn
ENST00000428214.5:c.2564G>A	ENSP00000394413.1:p.Ser855Asn
ENST00000438045.5:c.1769G>A	ENSP00000410438.1:p.Ser590Asn
ENST00000484913.5:n.2774G>A
ENST00000496420.5:n.2627G>A
NM_000466.2:c.2735G>A	NP_000457.1:p.Ser912Asn
NM_001282677.1:c.2564G>A	NP_001269606.1:p.Ser855Asn
NM_001282678.1:c.2111G>A	NP_001269607.1:p.Ser704Asn
XM_005250433.3:c.986G>A	XP_005250490.1:p.Ser329Asn
XR_242246.3:n.2831G>A
XM_017012319.2:c.986G>A	XP_016867808.1:p.Ser329Asn
XR_001744808.2:n.1762G>A
XR_242246.5:n.2782G>A
NM_000466.3:c.2735G>A MANE Select	NP_000457.1:p.Ser912Asn
NM_001282677.2:c.2564G>A	NP_001269606.1:p.Ser855Asn
NM_001282678.2:c.2111G>A	NP_001269607.1:p.Ser704Asn