Canonical Allele Identifier: CA161960498

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1034228
• ClinVar RCV Id: RCV001336889
• dbSNP Id: rs963232359
• gnomAD v2: 7-92131385-T-A
• gnomAD v3: 7-92502071-T-A
• gnomAD v4: 7-92502071-T-A
• MyVariant Identifiers: chr7:g.92131385T>A (hg19) ; chr7:g.92502071T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502071T>A , CM000669.2:g.92502071T>A	GRCh38
NC_000007.13:g.92131385T>A , CM000669.1:g.92131385T>A	GRCh37
NC_000007.12:g.91969321T>A	NCBI36
NG_008341.1:g.31461A>T
NG_008341.2:g.31461A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2235A>T MANE Select	ENSP00000248633.4:p.Arg745Ser
ENST00000248633.8:c.2235A>T	ENSP00000248633.4:p.Arg745Ser
ENST00000428214.5:c.2064A>T	ENSP00000394413.1:p.Arg688Ser
ENST00000438045.5:c.1269A>T	ENSP00000410438.1:p.Arg423Ser
ENST00000484913.5:n.2274A>T
ENST00000496092.1:n.33A>T
ENST00000496420.5:n.1911A>T
NM_000466.2:c.2235A>T	NP_000457.1:p.Arg745Ser
NM_001282677.1:c.2064A>T	NP_001269606.1:p.Arg688Ser
NM_001282678.1:c.1611A>T	NP_001269607.1:p.Arg537Ser
XM_005250433.3:c.486A>T	XP_005250490.1:p.Arg162Ser
XR_242246.3:n.2331A>T
XM_017012319.2:c.486A>T	XP_016867808.1:p.Arg162Ser
XR_001744808.2:n.1262A>T
XR_242246.5:n.2282A>T
NM_000466.3:c.2235A>T MANE Select	NP_000457.1:p.Arg745Ser
NM_001282677.2:c.2064A>T	NP_001269606.1:p.Arg688Ser
NM_001282678.2:c.1611A>T	NP_001269607.1:p.Arg537Ser