Canonical Allele Identifier: CA368177303

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131249C>T (hg19) ; chr7:g.92501935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501935C>T , CM000669.2:g.92501935C>T	GRCh38
NC_000007.13:g.92131249C>T , CM000669.1:g.92131249C>T	GRCh37
NC_000007.12:g.91969185C>T	NCBI36
NG_008341.1:g.31597G>A
NG_008341.2:g.31597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2371G>A MANE Select	ENSP00000248633.4:p.Ala791Thr
ENST00000248633.8:c.2371G>A	ENSP00000248633.4:p.Ala791Thr
ENST00000428214.5:c.2200G>A	ENSP00000394413.1:p.Ala734Thr
ENST00000438045.5:c.1405G>A	ENSP00000410438.1:p.Ala469Thr
ENST00000484913.5:n.2410G>A
ENST00000496092.1:n.169G>A
ENST00000496420.5:n.2047G>A
NM_000466.2:c.2371G>A	NP_000457.1:p.Ala791Thr
NM_001282677.1:c.2200G>A	NP_001269606.1:p.Ala734Thr
NM_001282678.1:c.1747G>A	NP_001269607.1:p.Ala583Thr
XM_005250433.3:c.622G>A	XP_005250490.1:p.Ala208Thr
XR_242246.3:n.2467G>A
XM_017012319.2:c.622G>A	XP_016867808.1:p.Ala208Thr
XR_001744808.2:n.1398G>A
XR_242246.5:n.2418G>A
NM_000466.3:c.2371G>A MANE Select	NP_000457.1:p.Ala791Thr
NM_001282677.2:c.2200G>A	NP_001269606.1:p.Ala734Thr
NM_001282678.2:c.1747G>A	NP_001269607.1:p.Ala583Thr