Canonical Allele Identifier: CA4341414

Gene: PEX1

Linked Data

• ClinVar Variation Id: 286647
• ClinVar RCV Id: RCV000268203 ; RCV001080221 ; RCV001277309 ; RCV001336887
• dbSNP Id: rs371890000
• ExAC: 7:92141024 G / A
• gnomAD v2: 7-92141024-G-A
• gnomAD v3: 7-92511710-G-A
• gnomAD v4: 7-92511710-G-A
• MyVariant Identifiers: chr7:g.92141024G>A (hg19) ; chr7:g.92511710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511710G>A , CM000669.2:g.92511710G>A	GRCh38
NC_000007.13:g.92141024G>A , CM000669.1:g.92141024G>A	GRCh37
NC_000007.12:g.91978960G>A	NCBI36
NG_008341.1:g.21822C>T
NG_008341.2:g.21822C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1360-7C>T MANE Select	ENSP00000248633.4:n.1360-7C>T
ENST00000248633.8:c.1360-7C>T	ENSP00000248633.4:n.1360-7C>T
ENST00000422866.1:c.261-7C>T
ENST00000428214.5:c.1360-7C>T	ENSP00000394413.1:n.1360-7C>T
ENST00000438045.5:c.394-7C>T	ENSP00000410438.1:n.394-7C>T
ENST00000476923.1:n.121-7C>T
ENST00000484913.5:n.1399-7C>T
NM_000466.2:c.1360-7C>T	NP_000457.1:n.1360-7C>T
NM_001282677.1:c.1360-7C>T	NP_001269606.1:n.1360-7C>T
NM_001282678.1:c.736-7C>T	NP_001269607.1:n.736-7C>T
XM_005250433.3:c.-307-7C>T	XP_005250490.1:n.-307-7C>T
XR_242246.3:n.1456-7C>T
XM_017012319.2:c.-307-7C>T	XP_016867808.1:n.-307-7C>T
XR_001744808.2:n.470-7C>T
XR_242246.5:n.1407-7C>T
NM_000466.3:c.1360-7C>T MANE Select	NP_000457.1:n.1360-7C>T
NM_001282677.2:c.1360-7C>T	NP_001269606.1:n.1360-7C>T
NM_001282678.2:c.736-7C>T	NP_001269607.1:n.736-7C>T