Canonical Allele Identifier: CA368204943

Gene: PEX1

Linked Data

• dbSNP Id: rs1469341456
• gnomAD v2: 7-92151484-G-T
• gnomAD v4: 7-92522170-G-T
• MyVariant Identifiers: chr7:g.92151484G>T (hg19) ; chr7:g.92522170G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522170G>T , CM000669.2:g.92522170G>T	GRCh38
NC_000007.13:g.92151484G>T , CM000669.1:g.92151484G>T	GRCh37
NC_000007.12:g.91989420G>T	NCBI36
NG_008341.1:g.11362C>A
NG_008341.2:g.11362C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.205C>A MANE Select	ENSP00000248633.4:p.Gln69Lys
ENST00000248633.8:c.205C>A	ENSP00000248633.4:p.Gln69Lys
ENST00000428214.5:c.205C>A	ENSP00000394413.1:p.Gln69Lys
ENST00000438045.5:c.205C>A	ENSP00000410438.1:p.Gln69Lys
ENST00000484913.5:n.209C>A
NM_000466.2:c.205C>A	NP_000457.1:p.Gln69Lys
NM_001282677.1:c.205C>A	NP_001269606.1:p.Gln69Lys
NM_001282678.1:c.-455C>A	NP_001269607.1:n.-455C>A
XR_242246.3:n.301C>A
XR_242246.5:n.252C>A
NM_000466.3:c.205C>A MANE Select	NP_000457.1:p.Gln69Lys
NM_001282677.2:c.205C>A	NP_001269606.1:p.Gln69Lys
NM_001282678.2:c.-455C>A	NP_001269607.1:n.-455C>A