Canonical Allele Identifier: CA368197869

Gene: PEX1

Linked Data

• dbSNP Id: rs1312963376
• gnomAD v2: 7-92146698-T-A
• MyVariant Identifiers: chr7:g.92146698T>A (hg19) ; chr7:g.92517384T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517384T>A , CM000669.2:g.92517384T>A	GRCh38
NC_000007.13:g.92146698T>A , CM000669.1:g.92146698T>A	GRCh37
NC_000007.12:g.91984634T>A	NCBI36
NG_008341.1:g.16148A>T
NG_008341.2:g.16148A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1131A>T MANE Select	ENSP00000248633.4:p.Glu377Asp
ENST00000248633.8:c.1131A>T	ENSP00000248633.4:p.Glu377Asp
ENST00000422866.1:c.32A>T
ENST00000428214.5:c.1131A>T	ENSP00000394413.1:p.Glu377Asp
ENST00000438045.5:c.274-3417A>T	ENSP00000410438.1:n.274-3417A>T
ENST00000484913.5:n.1170A>T
NM_000466.2:c.1131A>T	NP_000457.1:p.Glu377Asp
NM_001282677.1:c.1131A>T	NP_001269606.1:p.Glu377Asp
NM_001282678.1:c.507A>T	NP_001269607.1:p.Glu169Asp
XR_242246.3:n.1227A>T
XM_017012319.2:c.-536A>T	XP_016867808.1:n.-536A>T
XR_001744808.2:n.241A>T
XR_242246.5:n.1178A>T
NM_000466.3:c.1131A>T MANE Select	NP_000457.1:p.Glu377Asp
NM_001282677.2:c.1131A>T	NP_001269606.1:p.Glu377Asp
NM_001282678.2:c.507A>T	NP_001269607.1:p.Glu169Asp