Canonical Allele Identifier: CA4341063

Gene: PEX1

Linked Data

• ClinVar Variation Id: 736684
• ClinVar RCV Id: RCV000912359
• dbSNP Id: rs775421085
• ExAC: 7:92129090 C / A
• gnomAD v2: 7-92129090-C-A
• gnomAD v3: 7-92499776-C-A
• gnomAD v4: 7-92499776-C-A
• MyVariant Identifiers: chr7:g.92129090C>A (hg19) ; chr7:g.92499776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499776C>A , CM000669.2:g.92499776C>A	GRCh38
NC_000007.13:g.92129090C>A , CM000669.1:g.92129090C>A	GRCh37
NC_000007.12:g.91967026C>A	NCBI36
NG_008341.1:g.33756G>T
NG_008341.2:g.33756G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2646G>T MANE Select	ENSP00000248633.4:p.Pro882=
ENST00000248633.8:c.2646G>T	ENSP00000248633.4:p.Pro882=
ENST00000428214.5:c.2475G>T	ENSP00000394413.1:p.Pro825=
ENST00000438045.5:c.1680G>T	ENSP00000410438.1:p.Pro560=
ENST00000484913.5:n.2685G>T
ENST00000496420.5:n.2538G>T
NM_000466.2:c.2646G>T	NP_000457.1:p.Pro882=
NM_001282677.1:c.2475G>T	NP_001269606.1:p.Pro825=
NM_001282678.1:c.2022G>T	NP_001269607.1:p.Pro674=
XM_005250433.3:c.897G>T	XP_005250490.1:p.Pro299=
XR_242246.3:n.2742G>T
XM_017012319.2:c.897G>T	XP_016867808.1:p.Pro299=
XR_001744808.2:n.1673G>T
XR_242246.5:n.2693G>T
NM_000466.3:c.2646G>T MANE Select	NP_000457.1:p.Pro882=
NM_001282677.2:c.2475G>T	NP_001269606.1:p.Pro825=
NM_001282678.2:c.2022G>T	NP_001269607.1:p.Pro674=