Canonical Allele Identifier: CA368190395

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1726594
• ClinVar RCV Id: RCV002310278
• MyVariant Identifiers: chr7:g.92140353C>A (hg19) ; chr7:g.92511039C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511039C>A , CM000669.2:g.92511039C>A	GRCh38
NC_000007.13:g.92140353C>A , CM000669.1:g.92140353C>A	GRCh37
NC_000007.12:g.91978289C>A	NCBI36
NG_008341.1:g.22493G>T
NG_008341.2:g.22493G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1492G>T MANE Select	ENSP00000248633.4:p.Glu498Ter
ENST00000248633.8:c.1492G>T	ENSP00000248633.4:p.Glu498Ter
ENST00000422866.1:c.393G>T
ENST00000428214.5:c.1492G>T	ENSP00000394413.1:p.Glu498Ter
ENST00000438045.5:c.526G>T	ENSP00000410438.1:p.Glu176Ter
ENST00000476923.1:n.253G>T
ENST00000484913.5:n.1531G>T
NM_000466.2:c.1492G>T	NP_000457.1:p.Glu498Ter
NM_001282677.1:c.1492G>T	NP_001269606.1:p.Glu498Ter
NM_001282678.1:c.868G>T	NP_001269607.1:p.Glu290Ter
XM_005250433.3:c.-175G>T	XP_005250490.1:n.-175G>T
XR_242246.3:n.1588G>T
XM_017012319.2:c.-175G>T	XP_016867808.1:n.-175G>T
XR_001744808.2:n.602G>T
XR_242246.5:n.1539G>T
NM_000466.3:c.1492G>T MANE Select	NP_000457.1:p.Glu498Ter
NM_001282677.2:c.1492G>T	NP_001269606.1:p.Glu498Ter
NM_001282678.2:c.868G>T	NP_001269607.1:p.Glu290Ter