Canonical Allele Identifier: CA146658

Gene: PEX1

Linked Data

• ClinVar Variation Id: 93106
• ClinVar RCV Id: RCV000078921 ; RCV000356824 ; RCV000859827 ; RCV001507118
• dbSNP Id: rs145430946
• ExAC: 7:92130962 G / A
• gnomAD v2: 7-92130962-G-A
• gnomAD v3: 7-92501648-G-A
• gnomAD v4: 7-92501648-G-A
• MyVariant Identifiers: chr7:g.92130962G>A (hg19) ; chr7:g.92501648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501648G>A , CM000669.2:g.92501648G>A	GRCh38
NC_000007.13:g.92130962G>A , CM000669.1:g.92130962G>A	GRCh37
NC_000007.12:g.91968898G>A	NCBI36
NG_008341.1:g.31884C>T
NG_008341.2:g.31884C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2442C>T MANE Select	ENSP00000248633.4:p.Phe814=
ENST00000248633.8:c.2442C>T	ENSP00000248633.4:p.Phe814=
ENST00000428214.5:c.2271C>T	ENSP00000394413.1:p.Phe757=
ENST00000438045.5:c.1476C>T	ENSP00000410438.1:p.Phe492=
ENST00000484913.5:n.2481C>T
ENST00000496420.5:n.2334C>T
NM_000466.2:c.2442C>T	NP_000457.1:p.Phe814=
NM_001282677.1:c.2271C>T	NP_001269606.1:p.Phe757=
NM_001282678.1:c.1818C>T	NP_001269607.1:p.Phe606=
XM_005250433.3:c.693C>T	XP_005250490.1:p.Phe231=
XR_242246.3:n.2538C>T
XM_017012319.2:c.693C>T	XP_016867808.1:p.Phe231=
XR_001744808.2:n.1469C>T
XR_242246.5:n.2489C>T
NM_000466.3:c.2442C>T MANE Select	NP_000457.1:p.Phe814=
NM_001282677.2:c.2271C>T	NP_001269606.1:p.Phe757=
NM_001282678.2:c.1818C>T	NP_001269607.1:p.Phe606=