Canonical Allele Identifier: CA368173902

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92129095C>T (hg19) ; chr7:g.92499781C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499781C>T , CM000669.2:g.92499781C>T	GRCh38
NC_000007.13:g.92129095C>T , CM000669.1:g.92129095C>T	GRCh37
NC_000007.12:g.91967031C>T	NCBI36
NG_008341.1:g.33751G>A
NG_008341.2:g.33751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2641G>A MANE Select	ENSP00000248633.4:p.Gly881Ser
ENST00000248633.8:c.2641G>A	ENSP00000248633.4:p.Gly881Ser
ENST00000428214.5:c.2470G>A	ENSP00000394413.1:p.Gly824Ser
ENST00000438045.5:c.1675G>A	ENSP00000410438.1:p.Gly559Ser
ENST00000484913.5:n.2680G>A
ENST00000496420.5:n.2533G>A
NM_000466.2:c.2641G>A	NP_000457.1:p.Gly881Ser
NM_001282677.1:c.2470G>A	NP_001269606.1:p.Gly824Ser
NM_001282678.1:c.2017G>A	NP_001269607.1:p.Gly673Ser
XM_005250433.3:c.892G>A	XP_005250490.1:p.Gly298Ser
XR_242246.3:n.2737G>A
XM_017012319.2:c.892G>A	XP_016867808.1:p.Gly298Ser
XR_001744808.2:n.1668G>A
XR_242246.5:n.2688G>A
NM_000466.3:c.2641G>A MANE Select	NP_000457.1:p.Gly881Ser
NM_001282677.2:c.2470G>A	NP_001269606.1:p.Gly824Ser
NM_001282678.2:c.2017G>A	NP_001269607.1:p.Gly673Ser