Canonical Allele Identifier: CA368181890

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92132461G>T (hg19) ; chr7:g.92503147G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503147G>T , CM000669.2:g.92503147G>T	GRCh38
NC_000007.13:g.92132461G>T , CM000669.1:g.92132461G>T	GRCh37
NC_000007.12:g.91970397G>T	NCBI36
NG_008341.1:g.30385C>A
NG_008341.2:g.30385C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2120C>A MANE Select	ENSP00000248633.4:p.Ala707Glu
ENST00000248633.8:c.2120C>A	ENSP00000248633.4:p.Ala707Glu
ENST00000428214.5:c.1949C>A	ENSP00000394413.1:p.Ala650Glu
ENST00000438045.5:c.1154C>A	ENSP00000410438.1:p.Ala385Glu
ENST00000484913.5:n.2159C>A
ENST00000496420.5:n.1796C>A
NM_000466.2:c.2120C>A	NP_000457.1:p.Ala707Glu
NM_001282677.1:c.1949C>A	NP_001269606.1:p.Ala650Glu
NM_001282678.1:c.1496C>A	NP_001269607.1:p.Ala499Glu
XM_005250433.3:c.371C>A	XP_005250490.1:p.Ala124Glu
XR_242246.3:n.2216C>A
XM_017012319.2:c.371C>A	XP_016867808.1:p.Ala124Glu
XR_001744808.2:n.1147C>A
XR_242246.5:n.2167C>A
NM_000466.3:c.2120C>A MANE Select	NP_000457.1:p.Ala707Glu
NM_001282677.2:c.1949C>A	NP_001269606.1:p.Ala650Glu
NM_001282678.2:c.1496C>A	NP_001269607.1:p.Ala499Glu