Canonical Allele Identifier: CA16041153

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371702
• ClinVar RCV Id: RCV000409499 ; RCV000411020
• dbSNP Id: rs1057517470
• MyVariant Identifiers: chr7:g.92129119G>A (hg19) ; chr7:g.92499805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499805G>A , CM000669.2:g.92499805G>A	GRCh38
NC_000007.13:g.92129119G>A , CM000669.1:g.92129119G>A	GRCh37
NC_000007.12:g.91967055G>A	NCBI36
NG_008341.1:g.33727C>T
NG_008341.2:g.33727C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2617C>T MANE Select	ENSP00000248633.4:p.Gln873Ter
ENST00000248633.8:c.2617C>T	ENSP00000248633.4:p.Gln873Ter
ENST00000428214.5:c.2446C>T	ENSP00000394413.1:p.Gln816Ter
ENST00000438045.5:c.1651C>T	ENSP00000410438.1:p.Gln551Ter
ENST00000484913.5:n.2656C>T
ENST00000496420.5:n.2509C>T
NM_000466.2:c.2617C>T	NP_000457.1:p.Gln873Ter
NM_001282677.1:c.2446C>T	NP_001269606.1:p.Gln816Ter
NM_001282678.1:c.1993C>T	NP_001269607.1:p.Gln665Ter
XM_005250433.3:c.868C>T	XP_005250490.1:p.Gln290Ter
XR_242246.3:n.2713C>T
XM_017012319.2:c.868C>T	XP_016867808.1:p.Gln290Ter
XR_001744808.2:n.1644C>T
XR_242246.5:n.2664C>T
NM_000466.3:c.2617C>T MANE Select	NP_000457.1:p.Gln873Ter
NM_001282677.2:c.2446C>T	NP_001269606.1:p.Gln816Ter
NM_001282678.2:c.1993C>T	NP_001269607.1:p.Gln665Ter