Canonical Allele Identifier: CA4341041

Gene: PEX1

Linked Data

• dbSNP Id: rs759277476
• ExAC: 7:92126140 T / A
• gnomAD v2: 7-92126140-T-A
• gnomAD v4: 7-92496826-T-A
• MyVariant Identifiers: chr7:g.92126140T>A (hg19) ; chr7:g.92496826T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496826T>A , CM000669.2:g.92496826T>A	GRCh38
NC_000007.13:g.92126140T>A , CM000669.1:g.92126140T>A	GRCh37
NC_000007.12:g.91964076T>A	NCBI36
NG_008341.1:g.36706A>T
NG_008341.2:g.36706A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2719-49A>T MANE Select	ENSP00000248633.4:n.2719-49A>T
ENST00000248633.8:c.2719-49A>T	ENSP00000248633.4:n.2719-49A>T
ENST00000428214.5:c.2548-49A>T	ENSP00000394413.1:n.2548-49A>T
ENST00000438045.5:c.1753-49A>T	ENSP00000410438.1:n.1753-49A>T
ENST00000484913.5:n.2758-49A>T
ENST00000496420.5:n.2611-49A>T
NM_000466.2:c.2719-49A>T	NP_000457.1:n.2719-49A>T
NM_001282677.1:c.2548-49A>T	NP_001269606.1:n.2548-49A>T
NM_001282678.1:c.2095-49A>T	NP_001269607.1:n.2095-49A>T
XM_005250433.3:c.970-49A>T	XP_005250490.1:n.970-49A>T
XR_242246.3:n.2815-49A>T
XM_017012319.2:c.970-49A>T	XP_016867808.1:n.970-49A>T
XR_001744808.2:n.1746-49A>T
XR_242246.5:n.2766-49A>T
NM_000466.3:c.2719-49A>T MANE Select	NP_000457.1:n.2719-49A>T
NM_001282677.2:c.2548-49A>T	NP_001269606.1:n.2548-49A>T
NM_001282678.2:c.2095-49A>T	NP_001269607.1:n.2095-49A>T