Canonical Allele Identifier: CA456483998

Gene: PEX1

Linked Data

• dbSNP Id: rs1169594991
• gnomAD v4: 7-92518241-A-G
• MyVariant Identifiers: chr7:g.92147555A>G (hg19) ; chr7:g.92518241A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518241A>G , CM000669.2:g.92518241A>G	GRCh38
NC_000007.13:g.92147555A>G , CM000669.1:g.92147555A>G	GRCh37
NC_000007.12:g.91985491A>G	NCBI36
NG_008341.1:g.15291T>C
NG_008341.2:g.15291T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.372T>C MANE Select	ENSP00000248633.4:p.Val124=
ENST00000248633.8:c.372T>C	ENSP00000248633.4:p.Val124=
ENST00000428214.5:c.372T>C	ENSP00000394413.1:p.Val124=
ENST00000438045.5:c.273+3861T>C	ENSP00000410438.1:n.273+3861T>C
ENST00000484913.5:n.411T>C
NM_000466.2:c.372T>C	NP_000457.1:p.Val124=
NM_001282677.1:c.372T>C	NP_001269606.1:p.Val124=
NM_001282678.1:c.-253T>C	NP_001269607.1:n.-253T>C
XR_242246.3:n.468T>C
XR_242246.5:n.419T>C
NM_000466.3:c.372T>C MANE Select	NP_000457.1:p.Val124=
NM_001282677.2:c.372T>C	NP_001269606.1:p.Val124=
NM_001282678.2:c.-253T>C	NP_001269607.1:n.-253T>C