Canonical Allele Identifier: CA368181285

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92132384A>T (hg19) ; chr7:g.92503070A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2197T>A MANE Select	ENSP00000248633.4:p.Cys733Ser
ENST00000248633.8:c.2197T>A	ENSP00000248633.4:p.Cys733Ser
ENST00000428214.5:c.2026T>A	ENSP00000394413.1:p.Cys676Ser
ENST00000438045.5:c.1231T>A	ENSP00000410438.1:p.Cys411Ser
ENST00000484913.5:n.2236T>A
ENST00000496420.5:n.1873T>A
NM_000466.2:c.2197T>A	NP_000457.1:p.Cys733Ser
NM_001282677.1:c.2026T>A	NP_001269606.1:p.Cys676Ser
NM_001282678.1:c.1573T>A	NP_001269607.1:p.Cys525Ser
XM_005250433.3:c.448T>A	XP_005250490.1:p.Cys150Ser
XR_242246.3:n.2293T>A
XM_017012319.2:c.448T>A	XP_016867808.1:p.Cys150Ser
XR_001744808.2:n.1224T>A
XR_242246.5:n.2244T>A
NM_000466.3:c.2197T>A MANE Select	NP_000457.1:p.Cys733Ser
NM_001282677.2:c.2026T>A	NP_001269606.1:p.Cys676Ser
NM_001282678.2:c.1573T>A	NP_001269607.1:p.Cys525Ser