Canonical Allele Identifier: CA4341206

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2789902
• ClinVar RCV Id: RCV003760057
• dbSNP Id: rs779359502
• ExAC: 7:92132466 C / T
• gnomAD v2: 7-92132466-C-T
• gnomAD v4: 7-92503152-C-T
• MyVariant Identifiers: chr7:g.92132466C>T (hg19) ; chr7:g.92503152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503152C>T , CM000669.2:g.92503152C>T	GRCh38
NC_000007.13:g.92132466C>T , CM000669.1:g.92132466C>T	GRCh37
NC_000007.12:g.91970402C>T	NCBI36
NG_008341.1:g.30380G>A
NG_008341.2:g.30380G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2115G>A MANE Select	ENSP00000248633.4:p.Leu705=
ENST00000248633.8:c.2115G>A	ENSP00000248633.4:p.Leu705=
ENST00000428214.5:c.1944G>A	ENSP00000394413.1:p.Leu648=
ENST00000438045.5:c.1149G>A	ENSP00000410438.1:p.Leu383=
ENST00000484913.5:n.2154G>A
ENST00000496420.5:n.1791G>A
NM_000466.2:c.2115G>A	NP_000457.1:p.Leu705=
NM_001282677.1:c.1944G>A	NP_001269606.1:p.Leu648=
NM_001282678.1:c.1491G>A	NP_001269607.1:p.Leu497=
XM_005250433.3:c.366G>A	XP_005250490.1:p.Leu122=
XR_242246.3:n.2211G>A
XM_017012319.2:c.366G>A	XP_016867808.1:p.Leu122=
XR_001744808.2:n.1142G>A
XR_242246.5:n.2162G>A
NM_000466.3:c.2115G>A MANE Select	NP_000457.1:p.Leu705=
NM_001282677.2:c.1944G>A	NP_001269606.1:p.Leu648=
NM_001282678.2:c.1491G>A	NP_001269607.1:p.Leu497=