Canonical Allele Identifier: CA368170973

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92126051T>A (hg19) ; chr7:g.92496737T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496737T>A , CM000669.2:g.92496737T>A	GRCh38
NC_000007.13:g.92126051T>A , CM000669.1:g.92126051T>A	GRCh37
NC_000007.12:g.91963987T>A	NCBI36
NG_008341.1:g.36795A>T
NG_008341.2:g.36795A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2759A>T MANE Select	ENSP00000248633.4:p.Gln920Leu
ENST00000248633.8:c.2759A>T	ENSP00000248633.4:p.Gln920Leu
ENST00000428214.5:c.2588A>T	ENSP00000394413.1:p.Gln863Leu
ENST00000438045.5:c.1793A>T	ENSP00000410438.1:p.Gln598Leu
ENST00000484913.5:n.2798A>T
ENST00000496420.5:n.2651A>T
NM_000466.2:c.2759A>T	NP_000457.1:p.Gln920Leu
NM_001282677.1:c.2588A>T	NP_001269606.1:p.Gln863Leu
NM_001282678.1:c.2135A>T	NP_001269607.1:p.Gln712Leu
XM_005250433.3:c.1010A>T	XP_005250490.1:p.Gln337Leu
XR_242246.3:n.2855A>T
XM_017012319.2:c.1010A>T	XP_016867808.1:p.Gln337Leu
XR_001744808.2:n.1786A>T
XR_242246.5:n.2806A>T
NM_000466.3:c.2759A>T MANE Select	NP_000457.1:p.Gln920Leu
NM_001282677.2:c.2588A>T	NP_001269606.1:p.Gln863Leu
NM_001282678.2:c.2135A>T	NP_001269607.1:p.Gln712Leu