Canonical Allele Identifier: CA368197774

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146684C>A (hg19) ; chr7:g.92517370C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517370C>A , CM000669.2:g.92517370C>A	GRCh38
NC_000007.13:g.92146684C>A , CM000669.1:g.92146684C>A	GRCh37
NC_000007.12:g.91984620C>A	NCBI36
NG_008341.1:g.16162G>T
NG_008341.2:g.16162G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1145G>T MANE Select	ENSP00000248633.4:p.Cys382Phe
ENST00000248633.8:c.1145G>T	ENSP00000248633.4:p.Cys382Phe
ENST00000422866.1:c.46G>T
ENST00000428214.5:c.1145G>T	ENSP00000394413.1:p.Cys382Phe
ENST00000438045.5:c.274-3403G>T	ENSP00000410438.1:n.274-3403G>T
ENST00000484913.5:n.1184G>T
NM_000466.2:c.1145G>T	NP_000457.1:p.Cys382Phe
NM_001282677.1:c.1145G>T	NP_001269606.1:p.Cys382Phe
NM_001282678.1:c.521G>T	NP_001269607.1:p.Cys174Phe
XR_242246.3:n.1241G>T
XM_017012319.2:c.-522G>T	XP_016867808.1:n.-522G>T
XR_001744808.2:n.255G>T
XR_242246.5:n.1192G>T
NM_000466.3:c.1145G>T MANE Select	NP_000457.1:p.Cys382Phe
NM_001282677.2:c.1145G>T	NP_001269606.1:p.Cys382Phe
NM_001282678.2:c.521G>T	NP_001269607.1:p.Cys174Phe