Canonical Allele Identifier: CA368178032

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502003-T-A
• MyVariant Identifiers: chr7:g.92131317T>A (hg19) ; chr7:g.92502003T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502003T>A , CM000669.2:g.92502003T>A	GRCh38
NC_000007.13:g.92131317T>A , CM000669.1:g.92131317T>A	GRCh37
NC_000007.12:g.91969253T>A	NCBI36
NG_008341.1:g.31529A>T
NG_008341.2:g.31529A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2303A>T MANE Select	ENSP00000248633.4:p.Asp768Val
ENST00000248633.8:c.2303A>T	ENSP00000248633.4:p.Asp768Val
ENST00000428214.5:c.2132A>T	ENSP00000394413.1:p.Asp711Val
ENST00000438045.5:c.1337A>T	ENSP00000410438.1:p.Asp446Val
ENST00000484913.5:n.2342A>T
ENST00000496092.1:n.101A>T
ENST00000496420.5:n.1979A>T
NM_000466.2:c.2303A>T	NP_000457.1:p.Asp768Val
NM_001282677.1:c.2132A>T	NP_001269606.1:p.Asp711Val
NM_001282678.1:c.1679A>T	NP_001269607.1:p.Asp560Val
XM_005250433.3:c.554A>T	XP_005250490.1:p.Asp185Val
XR_242246.3:n.2399A>T
XM_017012319.2:c.554A>T	XP_016867808.1:p.Asp185Val
XR_001744808.2:n.1330A>T
XR_242246.5:n.2350A>T
NM_000466.3:c.2303A>T MANE Select	NP_000457.1:p.Asp768Val
NM_001282677.2:c.2132A>T	NP_001269606.1:p.Asp711Val
NM_001282678.2:c.1679A>T	NP_001269607.1:p.Asp560Val