Canonical Allele Identifier: CA456483708

Gene: PEX1

Linked Data

• gnomAD v4: 7-92510962-C-A
• MyVariant Identifiers: chr7:g.92140276C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510962C>A , CM000669.2:g.92510962C>A	GRCh38
NC_000007.13:g.92140276C>A , CM000669.1:g.92140276C>A	GRCh37
NC_000007.12:g.91978212C>A	NCBI36
NG_008341.1:g.22570G>T
NG_008341.2:g.22570G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1569G>T MANE Select	ENSP00000248633.4:p.Leu523=
ENST00000248633.8:c.1569G>T	ENSP00000248633.4:p.Leu523=
ENST00000422866.1:c.470G>T
ENST00000428214.5:c.1569G>T	ENSP00000394413.1:p.Leu523=
ENST00000438045.5:c.603G>T	ENSP00000410438.1:p.Leu201=
ENST00000476923.1:n.330G>T
ENST00000484913.5:n.1608G>T
NM_000466.2:c.1569G>T	NP_000457.1:p.Leu523=
NM_001282677.1:c.1569G>T	NP_001269606.1:p.Leu523=
NM_001282678.1:c.945G>T	NP_001269607.1:p.Leu315=
XM_005250433.3:c.-98G>T	XP_005250490.1:n.-98G>T
XR_242246.3:n.1665G>T
XM_017012319.2:c.-98G>T	XP_016867808.1:n.-98G>T
XR_001744808.2:n.679G>T
XR_242246.5:n.1616G>T
NM_000466.3:c.1569G>T MANE Select	NP_000457.1:p.Leu523=
NM_001282677.2:c.1569G>T	NP_001269606.1:p.Leu523=
NM_001282678.2:c.945G>T	NP_001269607.1:p.Leu315=