Canonical Allele Identifier: CA456481799

Gene: PEX1

Linked Data

• gnomAD v4: 7-92496772-T-C
• MyVariant Identifiers: chr7:g.92126086T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496772T>C , CM000669.2:g.92496772T>C	GRCh38
NC_000007.13:g.92126086T>C , CM000669.1:g.92126086T>C	GRCh37
NC_000007.12:g.91964022T>C	NCBI36
NG_008341.1:g.36760A>G
NG_008341.2:g.36760A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2724A>G MANE Select	ENSP00000248633.4:p.Pro908=
ENST00000248633.8:c.2724A>G	ENSP00000248633.4:p.Pro908=
ENST00000428214.5:c.2553A>G	ENSP00000394413.1:p.Pro851=
ENST00000438045.5:c.1758A>G	ENSP00000410438.1:p.Pro586=
ENST00000484913.5:n.2763A>G
ENST00000496420.5:n.2616A>G
NM_000466.2:c.2724A>G	NP_000457.1:p.Pro908=
NM_001282677.1:c.2553A>G	NP_001269606.1:p.Pro851=
NM_001282678.1:c.2100A>G	NP_001269607.1:p.Pro700=
XM_005250433.3:c.975A>G	XP_005250490.1:p.Pro325=
XR_242246.3:n.2820A>G
XM_017012319.2:c.975A>G	XP_016867808.1:p.Pro325=
XR_001744808.2:n.1751A>G
XR_242246.5:n.2771A>G
NM_000466.3:c.2724A>G MANE Select	NP_000457.1:p.Pro908=
NM_001282677.2:c.2553A>G	NP_001269606.1:p.Pro851=
NM_001282678.2:c.2100A>G	NP_001269607.1:p.Pro700=