Canonical Allele Identifier: CA368190040

Gene: PEX1

Linked Data

• dbSNP Id: rs1023263890
• gnomAD v4: 7-92510977-C-A
• MyVariant Identifiers: chr7:g.92140291C>A (hg19) ; chr7:g.92510977C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510977C>A , CM000669.2:g.92510977C>A	GRCh38
NC_000007.13:g.92140291C>A , CM000669.1:g.92140291C>A	GRCh37
NC_000007.12:g.91978227C>A	NCBI36
NG_008341.1:g.22555G>T
NG_008341.2:g.22555G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1554G>T MANE Select	ENSP00000248633.4:p.Leu518Phe
ENST00000248633.8:c.1554G>T	ENSP00000248633.4:p.Leu518Phe
ENST00000422866.1:c.455G>T
ENST00000428214.5:c.1554G>T	ENSP00000394413.1:p.Leu518Phe
ENST00000438045.5:c.588G>T	ENSP00000410438.1:p.Leu196Phe
ENST00000476923.1:n.315G>T
ENST00000484913.5:n.1593G>T
NM_000466.2:c.1554G>T	NP_000457.1:p.Leu518Phe
NM_001282677.1:c.1554G>T	NP_001269606.1:p.Leu518Phe
NM_001282678.1:c.930G>T	NP_001269607.1:p.Leu310Phe
XM_005250433.3:c.-113G>T	XP_005250490.1:n.-113G>T
XR_242246.3:n.1650G>T
XM_017012319.2:c.-113G>T	XP_016867808.1:n.-113G>T
XR_001744808.2:n.664G>T
XR_242246.5:n.1601G>T
NM_000466.3:c.1554G>T MANE Select	NP_000457.1:p.Leu518Phe
NM_001282677.2:c.1554G>T	NP_001269606.1:p.Leu518Phe
NM_001282678.2:c.930G>T	NP_001269607.1:p.Leu310Phe