Canonical Allele Identifier: CA368177502

Gene: PEX1

Linked Data

• dbSNP Id: rs1585231707
• gnomAD v4: 7-92501958-T-A
• MyVariant Identifiers: chr7:g.92131272T>A (hg19) ; chr7:g.92501958T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501958T>A , CM000669.2:g.92501958T>A	GRCh38
NC_000007.13:g.92131272T>A , CM000669.1:g.92131272T>A	GRCh37
NC_000007.12:g.91969208T>A	NCBI36
NG_008341.1:g.31574A>T
NG_008341.2:g.31574A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2348A>T MANE Select	ENSP00000248633.4:p.Asp783Val
ENST00000248633.8:c.2348A>T	ENSP00000248633.4:p.Asp783Val
ENST00000428214.5:c.2177A>T	ENSP00000394413.1:p.Asp726Val
ENST00000438045.5:c.1382A>T	ENSP00000410438.1:p.Asp461Val
ENST00000484913.5:n.2387A>T
ENST00000496092.1:n.146A>T
ENST00000496420.5:n.2024A>T
NM_000466.2:c.2348A>T	NP_000457.1:p.Asp783Val
NM_001282677.1:c.2177A>T	NP_001269606.1:p.Asp726Val
NM_001282678.1:c.1724A>T	NP_001269607.1:p.Asp575Val
XM_005250433.3:c.599A>T	XP_005250490.1:p.Asp200Val
XR_242246.3:n.2444A>T
XM_017012319.2:c.599A>T	XP_016867808.1:p.Asp200Val
XR_001744808.2:n.1375A>T
XR_242246.5:n.2395A>T
NM_000466.3:c.2348A>T MANE Select	NP_000457.1:p.Asp783Val
NM_001282677.2:c.2177A>T	NP_001269606.1:p.Asp726Val
NM_001282678.2:c.1724A>T	NP_001269607.1:p.Asp575Val