Canonical Allele Identifier: CA456482937

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2122784
• ClinVar RCV Id: RCV003054224
• gnomAD v4: 7-92501972-C-T
• MyVariant Identifiers: chr7:g.92131286C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501972C>T , CM000669.2:g.92501972C>T	GRCh38
NC_000007.13:g.92131286C>T , CM000669.1:g.92131286C>T	GRCh37
NC_000007.12:g.91969222C>T	NCBI36
NG_008341.1:g.31560G>A
NG_008341.2:g.31560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2334G>A MANE Select	ENSP00000248633.4:p.Gly778=
ENST00000248633.8:c.2334G>A	ENSP00000248633.4:p.Gly778=
ENST00000428214.5:c.2163G>A	ENSP00000394413.1:p.Gly721=
ENST00000438045.5:c.1368G>A	ENSP00000410438.1:p.Gly456=
ENST00000484913.5:n.2373G>A
ENST00000496092.1:n.132G>A
ENST00000496420.5:n.2010G>A
NM_000466.2:c.2334G>A	NP_000457.1:p.Gly778=
NM_001282677.1:c.2163G>A	NP_001269606.1:p.Gly721=
NM_001282678.1:c.1710G>A	NP_001269607.1:p.Gly570=
XM_005250433.3:c.585G>A	XP_005250490.1:p.Gly195=
XR_242246.3:n.2430G>A
XM_017012319.2:c.585G>A	XP_016867808.1:p.Gly195=
XR_001744808.2:n.1361G>A
XR_242246.5:n.2381G>A
NM_000466.3:c.2334G>A MANE Select	NP_000457.1:p.Gly778=
NM_001282677.2:c.2163G>A	NP_001269606.1:p.Gly721=
NM_001282678.2:c.1710G>A	NP_001269607.1:p.Gly570=