Canonical Allele Identifier: CA368185461

Gene: PEX1

Linked Data

• dbSNP Id: rs1792186860
• gnomAD v3: 7-92506335-T-A
• gnomAD v4: 7-92506335-T-A
• MyVariant Identifiers: chr7:g.92135649T>A (hg19) ; chr7:g.92506335T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506335T>A , CM000669.2:g.92506335T>A	GRCh38
NC_000007.13:g.92135649T>A , CM000669.1:g.92135649T>A	GRCh37
NC_000007.12:g.91973585T>A	NCBI36
NG_008341.1:g.27197A>T
NG_008341.2:g.27197A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1813A>T MANE Select	ENSP00000248633.4:p.Lys605Ter
ENST00000248633.8:c.1813A>T	ENSP00000248633.4:p.Lys605Ter
ENST00000422866.1:c.631A>T
ENST00000428214.5:c.1813A>T	ENSP00000394413.1:p.Lys605Ter
ENST00000438045.5:c.847A>T	ENSP00000410438.1:p.Lys283Ter
ENST00000484913.5:n.1852A>T
ENST00000496420.5:n.1489A>T
NM_000466.2:c.1813A>T	NP_000457.1:p.Lys605Ter
NM_001282677.1:c.1813A>T	NP_001269606.1:p.Lys605Ter
NM_001282678.1:c.1189A>T	NP_001269607.1:p.Lys397Ter
XM_005250433.3:c.64A>T	XP_005250490.1:p.Lys22Ter
XR_242246.3:n.1909A>T
XM_017012319.2:c.64A>T	XP_016867808.1:p.Lys22Ter
XR_001744808.2:n.840A>T
XR_242246.5:n.1860A>T
NM_000466.3:c.1813A>T MANE Select	NP_000457.1:p.Lys605Ter
NM_001282677.2:c.1813A>T	NP_001269606.1:p.Lys605Ter
NM_001282678.2:c.1189A>T	NP_001269607.1:p.Lys397Ter