Canonical Allele Identifier: CA16041161

Gene: PEX1

Linked Data

• ClinVar Variation Id: 371726
• ClinVar RCV Id: RCV000409232 ; RCV000411702
• dbSNP Id: rs1057517489
• MyVariant Identifiers: chr7:g.92136346C>A (hg19) ; chr7:g.92507032C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507032C>A , CM000669.2:g.92507032C>A	GRCh38
NC_000007.13:g.92136346C>A , CM000669.1:g.92136346C>A	GRCh37
NC_000007.12:g.91974282C>A	NCBI36
NG_008341.1:g.26500G>T
NG_008341.2:g.26500G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1765G>T MANE Select	ENSP00000248633.4:p.Gly589Ter
ENST00000248633.8:c.1765G>T	ENSP00000248633.4:p.Gly589Ter
ENST00000422866.1:c.583G>T
ENST00000428214.5:c.1765G>T	ENSP00000394413.1:p.Gly589Ter
ENST00000438045.5:c.799G>T	ENSP00000410438.1:p.Gly267Ter
ENST00000484913.5:n.1804G>T
ENST00000496420.5:n.792G>T
NM_000466.2:c.1765G>T	NP_000457.1:p.Gly589Ter
NM_001282677.1:c.1765G>T	NP_001269606.1:p.Gly589Ter
NM_001282678.1:c.1141G>T	NP_001269607.1:p.Gly381Ter
XM_005250433.3:c.16G>T	XP_005250490.1:p.Gly6Ter
XR_242246.3:n.1861G>T
XM_017012319.2:c.16G>T	XP_016867808.1:p.Gly6Ter
XR_001744808.2:n.792G>T
XR_242246.5:n.1812G>T
NM_000466.3:c.1765G>T MANE Select	NP_000457.1:p.Gly589Ter
NM_001282677.2:c.1765G>T	NP_001269606.1:p.Gly589Ter
NM_001282678.2:c.1141G>T	NP_001269607.1:p.Gly381Ter