Canonical Allele Identifier: CA456483755

Gene: PEX1

Linked Data

• dbSNP Id: rs2116205720
• gnomAD v4: 7-92511046-T-C
• MyVariant Identifiers: chr7:g.92140360T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511046T>C , CM000669.2:g.92511046T>C	GRCh38
NC_000007.13:g.92140360T>C , CM000669.1:g.92140360T>C	GRCh37
NC_000007.12:g.91978296T>C	NCBI36
NG_008341.1:g.22486A>G
NG_008341.2:g.22486A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1485A>G MANE Select	ENSP00000248633.4:p.Gly495=
ENST00000248633.8:c.1485A>G	ENSP00000248633.4:p.Gly495=
ENST00000422866.1:c.386A>G
ENST00000428214.5:c.1485A>G	ENSP00000394413.1:p.Gly495=
ENST00000438045.5:c.519A>G	ENSP00000410438.1:p.Gly173=
ENST00000476923.1:n.246A>G
ENST00000484913.5:n.1524A>G
NM_000466.2:c.1485A>G	NP_000457.1:p.Gly495=
NM_001282677.1:c.1485A>G	NP_001269606.1:p.Gly495=
NM_001282678.1:c.861A>G	NP_001269607.1:p.Gly287=
XM_005250433.3:c.-182A>G	XP_005250490.1:n.-182A>G
XR_242246.3:n.1581A>G
XM_017012319.2:c.-182A>G	XP_016867808.1:n.-182A>G
XR_001744808.2:n.595A>G
XR_242246.5:n.1532A>G
NM_000466.3:c.1485A>G MANE Select	NP_000457.1:p.Gly495=
NM_001282677.2:c.1485A>G	NP_001269606.1:p.Gly495=
NM_001282678.2:c.861A>G	NP_001269607.1:p.Gly287=