Canonical Allele Identifier: CA4341023

Gene: PEX1

Linked Data

• dbSNP Id: rs754883210
• ExAC: 7:92126042 C / T
• gnomAD v2: 7-92126042-C-T
• gnomAD v3: 7-92496728-C-T
• gnomAD v4: 7-92496728-C-T
• MyVariant Identifiers: chr7:g.92126042C>T (hg19) ; chr7:g.92496728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496728C>T , CM000669.2:g.92496728C>T	GRCh38
NC_000007.13:g.92126042C>T , CM000669.1:g.92126042C>T	GRCh37
NC_000007.12:g.91963978C>T	NCBI36
NG_008341.1:g.36804G>A
NG_008341.2:g.36804G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2768G>A MANE Select	ENSP00000248633.4:p.Arg923Gln
ENST00000248633.8:c.2768G>A	ENSP00000248633.4:p.Arg923Gln
ENST00000428214.5:c.2597G>A	ENSP00000394413.1:p.Arg866Gln
ENST00000438045.5:c.1802G>A	ENSP00000410438.1:p.Arg601Gln
ENST00000484913.5:n.2807G>A
ENST00000496420.5:n.2660G>A
NM_000466.2:c.2768G>A	NP_000457.1:p.Arg923Gln
NM_001282677.1:c.2597G>A	NP_001269606.1:p.Arg866Gln
NM_001282678.1:c.2144G>A	NP_001269607.1:p.Arg715Gln
XM_005250433.3:c.1019G>A	XP_005250490.1:p.Arg340Gln
XR_242246.3:n.2864G>A
XM_017012319.2:c.1019G>A	XP_016867808.1:p.Arg340Gln
XR_001744808.2:n.1795G>A
XR_242246.5:n.2815G>A
NM_000466.3:c.2768G>A MANE Select	NP_000457.1:p.Arg923Gln
NM_001282677.2:c.2597G>A	NP_001269606.1:p.Arg866Gln
NM_001282678.2:c.2144G>A	NP_001269607.1:p.Arg715Gln