Canonical Allele Identifier: CA368170957

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1483349
• ClinVar RCV Id: RCV001998732
• dbSNP Id: rs2116110846
• MyVariant Identifiers: chr7:g.92126049C>T (hg19) ; chr7:g.92496735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496735C>T , CM000669.2:g.92496735C>T	GRCh38
NC_000007.13:g.92126049C>T , CM000669.1:g.92126049C>T	GRCh37
NC_000007.12:g.91963985C>T	NCBI36
NG_008341.1:g.36797G>A
NG_008341.2:g.36797G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2761G>A MANE Select	ENSP00000248633.4:p.Ala921Thr
ENST00000248633.8:c.2761G>A	ENSP00000248633.4:p.Ala921Thr
ENST00000428214.5:c.2590G>A	ENSP00000394413.1:p.Ala864Thr
ENST00000438045.5:c.1795G>A	ENSP00000410438.1:p.Ala599Thr
ENST00000484913.5:n.2800G>A
ENST00000496420.5:n.2653G>A
NM_000466.2:c.2761G>A	NP_000457.1:p.Ala921Thr
NM_001282677.1:c.2590G>A	NP_001269606.1:p.Ala864Thr
NM_001282678.1:c.2137G>A	NP_001269607.1:p.Ala713Thr
XM_005250433.3:c.1012G>A	XP_005250490.1:p.Ala338Thr
XR_242246.3:n.2857G>A
XM_017012319.2:c.1012G>A	XP_016867808.1:p.Ala338Thr
XR_001744808.2:n.1788G>A
XR_242246.5:n.2808G>A
NM_000466.3:c.2761G>A MANE Select	NP_000457.1:p.Ala921Thr
NM_001282677.2:c.2590G>A	NP_001269606.1:p.Ala864Thr
NM_001282678.2:c.2137G>A	NP_001269607.1:p.Ala713Thr