Canonical Allele Identifier: CA368181032

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92132363G>T (hg19) ; chr7:g.92503049G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503049G>T , CM000669.2:g.92503049G>T	GRCh38
NC_000007.13:g.92132363G>T , CM000669.1:g.92132363G>T	GRCh37
NC_000007.12:g.91970299G>T	NCBI36
NG_008341.1:g.30483C>A
NG_008341.2:g.30483C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2218C>A MANE Select	ENSP00000248633.4:p.Pro740Thr
ENST00000248633.8:c.2218C>A	ENSP00000248633.4:p.Pro740Thr
ENST00000428214.5:c.2047C>A	ENSP00000394413.1:p.Pro683Thr
ENST00000438045.5:c.1252C>A	ENSP00000410438.1:p.Pro418Thr
ENST00000484913.5:n.2257C>A
ENST00000496092.1:n.16C>A
ENST00000496420.5:n.1894C>A
NM_000466.2:c.2218C>A	NP_000457.1:p.Pro740Thr
NM_001282677.1:c.2047C>A	NP_001269606.1:p.Pro683Thr
NM_001282678.1:c.1594C>A	NP_001269607.1:p.Pro532Thr
XM_005250433.3:c.469C>A	XP_005250490.1:p.Pro157Thr
XR_242246.3:n.2314C>A
XM_017012319.2:c.469C>A	XP_016867808.1:p.Pro157Thr
XR_001744808.2:n.1245C>A
XR_242246.5:n.2265C>A
NM_000466.3:c.2218C>A MANE Select	NP_000457.1:p.Pro740Thr
NM_001282677.2:c.2047C>A	NP_001269606.1:p.Pro683Thr
NM_001282678.2:c.1594C>A	NP_001269607.1:p.Pro532Thr