Canonical Allele Identifier: CA368177961

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2677645
• ClinVar RCV Id: RCV003476779 ; RCV003594694
• MyVariant Identifiers: chr7:g.92131312G>A (hg19) ; chr7:g.92501998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501998G>A , CM000669.2:g.92501998G>A	GRCh38
NC_000007.13:g.92131312G>A , CM000669.1:g.92131312G>A	GRCh37
NC_000007.12:g.91969248G>A	NCBI36
NG_008341.1:g.31534C>T
NG_008341.2:g.31534C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2308C>T MANE Select	ENSP00000248633.4:p.Gln770Ter
ENST00000248633.8:c.2308C>T	ENSP00000248633.4:p.Gln770Ter
ENST00000428214.5:c.2137C>T	ENSP00000394413.1:p.Gln713Ter
ENST00000438045.5:c.1342C>T	ENSP00000410438.1:p.Gln448Ter
ENST00000484913.5:n.2347C>T
ENST00000496092.1:n.106C>T
ENST00000496420.5:n.1984C>T
NM_000466.2:c.2308C>T	NP_000457.1:p.Gln770Ter
NM_001282677.1:c.2137C>T	NP_001269606.1:p.Gln713Ter
NM_001282678.1:c.1684C>T	NP_001269607.1:p.Gln562Ter
XM_005250433.3:c.559C>T	XP_005250490.1:p.Gln187Ter
XR_242246.3:n.2404C>T
XM_017012319.2:c.559C>T	XP_016867808.1:p.Gln187Ter
XR_001744808.2:n.1335C>T
XR_242246.5:n.2355C>T
NM_000466.3:c.2308C>T MANE Select	NP_000457.1:p.Gln770Ter
NM_001282677.2:c.2137C>T	NP_001269606.1:p.Gln713Ter
NM_001282678.2:c.1684C>T	NP_001269607.1:p.Gln562Ter