Canonical Allele Identifier: CA368181288

Gene: PEX1

Linked Data

• gnomAD v4: 7-92503070-A-G
• MyVariant Identifiers: chr7:g.92132384A>G (hg19) ; chr7:g.92503070A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503070A>G , CM000669.2:g.92503070A>G	GRCh38
NC_000007.13:g.92132384A>G , CM000669.1:g.92132384A>G	GRCh37
NC_000007.12:g.91970320A>G	NCBI36
NG_008341.1:g.30462T>C
NG_008341.2:g.30462T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2197T>C MANE Select	ENSP00000248633.4:p.Cys733Arg
ENST00000248633.8:c.2197T>C	ENSP00000248633.4:p.Cys733Arg
ENST00000428214.5:c.2026T>C	ENSP00000394413.1:p.Cys676Arg
ENST00000438045.5:c.1231T>C	ENSP00000410438.1:p.Cys411Arg
ENST00000484913.5:n.2236T>C
ENST00000496420.5:n.1873T>C
NM_000466.2:c.2197T>C	NP_000457.1:p.Cys733Arg
NM_001282677.1:c.2026T>C	NP_001269606.1:p.Cys676Arg
NM_001282678.1:c.1573T>C	NP_001269607.1:p.Cys525Arg
XM_005250433.3:c.448T>C	XP_005250490.1:p.Cys150Arg
XR_242246.3:n.2293T>C
XM_017012319.2:c.448T>C	XP_016867808.1:p.Cys150Arg
XR_001744808.2:n.1224T>C
XR_242246.5:n.2244T>C
NM_000466.3:c.2197T>C MANE Select	NP_000457.1:p.Cys733Arg
NM_001282677.2:c.2026T>C	NP_001269606.1:p.Cys676Arg
NM_001282678.2:c.1573T>C	NP_001269607.1:p.Cys525Arg