Canonical Allele Identifier: CA4341506

Gene: PEX1

Linked Data

• dbSNP Id: rs753342234
• ExAC: 7:92146816 A / T
• gnomAD v2: 7-92146816-A-T
• gnomAD v4: 7-92517502-A-T
• MyVariant Identifiers: chr7:g.92146816A>T (hg19) ; chr7:g.92517502A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517502A>T , CM000669.2:g.92517502A>T	GRCh38
NC_000007.13:g.92146816A>T , CM000669.1:g.92146816A>T	GRCh37
NC_000007.12:g.91984752A>T	NCBI36
NG_008341.1:g.16030T>A
NG_008341.2:g.16030T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1013T>A MANE Select	ENSP00000248633.4:p.Leu338Gln
ENST00000248633.8:c.1013T>A	ENSP00000248633.4:p.Leu338Gln
ENST00000428214.5:c.1013T>A	ENSP00000394413.1:p.Leu338Gln
ENST00000438045.5:c.274-3535T>A	ENSP00000410438.1:n.274-3535T>A
ENST00000484913.5:n.1052T>A
NM_000466.2:c.1013T>A	NP_000457.1:p.Leu338Gln
NM_001282677.1:c.1013T>A	NP_001269606.1:p.Leu338Gln
NM_001282678.1:c.389T>A	NP_001269607.1:p.Leu130Gln
XR_242246.3:n.1109T>A
XM_017012319.2:c.-654T>A	XP_016867808.1:n.-654T>A
XR_001744808.2:n.123T>A
XR_242246.5:n.1060T>A
NM_000466.3:c.1013T>A MANE Select	NP_000457.1:p.Leu338Gln
NM_001282677.2:c.1013T>A	NP_001269606.1:p.Leu338Gln
NM_001282678.2:c.389T>A	NP_001269607.1:p.Leu130Gln