Canonical Allele Identifier: CA4341074

Gene: PEX1

Linked Data

• dbSNP Id: rs748744593
• ExAC: 7:92129136 G / A
• gnomAD v2: 7-92129136-G-A
• gnomAD v4: 7-92499822-G-A
• MyVariant Identifiers: chr7:g.92129136G>A (hg19) ; chr7:g.92499822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499822G>A , CM000669.2:g.92499822G>A	GRCh38
NC_000007.13:g.92129136G>A , CM000669.1:g.92129136G>A	GRCh37
NC_000007.12:g.91967072G>A	NCBI36
NG_008341.1:g.33710C>T
NG_008341.2:g.33710C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2600C>T MANE Select	ENSP00000248633.4:p.Ala867Val
ENST00000248633.8:c.2600C>T	ENSP00000248633.4:p.Ala867Val
ENST00000428214.5:c.2429C>T	ENSP00000394413.1:p.Ala810Val
ENST00000438045.5:c.1634C>T	ENSP00000410438.1:p.Ala545Val
ENST00000484913.5:n.2639C>T
ENST00000496420.5:n.2492C>T
NM_000466.2:c.2600C>T	NP_000457.1:p.Ala867Val
NM_001282677.1:c.2429C>T	NP_001269606.1:p.Ala810Val
NM_001282678.1:c.1976C>T	NP_001269607.1:p.Ala659Val
XM_005250433.3:c.851C>T	XP_005250490.1:p.Ala284Val
XR_242246.3:n.2696C>T
XM_017012319.2:c.851C>T	XP_016867808.1:p.Ala284Val
XR_001744808.2:n.1627C>T
XR_242246.5:n.2647C>T
NM_000466.3:c.2600C>T MANE Select	NP_000457.1:p.Ala867Val
NM_001282677.2:c.2429C>T	NP_001269606.1:p.Ala810Val
NM_001282678.2:c.1976C>T	NP_001269607.1:p.Ala659Val