Canonical Allele Identifier: CA368177448

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131266G>A (hg19) ; chr7:g.92501952G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501952G>A , CM000669.2:g.92501952G>A	GRCh38
NC_000007.13:g.92131266G>A , CM000669.1:g.92131266G>A	GRCh37
NC_000007.12:g.91969202G>A	NCBI36
NG_008341.1:g.31580C>T
NG_008341.2:g.31580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2354C>T MANE Select	ENSP00000248633.4:p.Thr785Ile
ENST00000248633.8:c.2354C>T	ENSP00000248633.4:p.Thr785Ile
ENST00000428214.5:c.2183C>T	ENSP00000394413.1:p.Thr728Ile
ENST00000438045.5:c.1388C>T	ENSP00000410438.1:p.Thr463Ile
ENST00000484913.5:n.2393C>T
ENST00000496092.1:n.152C>T
ENST00000496420.5:n.2030C>T
NM_000466.2:c.2354C>T	NP_000457.1:p.Thr785Ile
NM_001282677.1:c.2183C>T	NP_001269606.1:p.Thr728Ile
NM_001282678.1:c.1730C>T	NP_001269607.1:p.Thr577Ile
XM_005250433.3:c.605C>T	XP_005250490.1:p.Thr202Ile
XR_242246.3:n.2450C>T
XM_017012319.2:c.605C>T	XP_016867808.1:p.Thr202Ile
XR_001744808.2:n.1381C>T
XR_242246.5:n.2401C>T
NM_000466.3:c.2354C>T MANE Select	NP_000457.1:p.Thr785Ile
NM_001282677.2:c.2183C>T	NP_001269606.1:p.Thr728Ile
NM_001282678.2:c.1730C>T	NP_001269607.1:p.Thr577Ile