Canonical Allele Identifier: CA4341065

Gene: PEX1

Linked Data

• dbSNP Id: rs758573542
• ExAC: 7:92129101 A / G
• gnomAD v2: 7-92129101-A-G
• MyVariant Identifiers: chr7:g.92129101A>G (hg19) ; chr7:g.92499787A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499787A>G , CM000669.2:g.92499787A>G	GRCh38
NC_000007.13:g.92129101A>G , CM000669.1:g.92129101A>G	GRCh37
NC_000007.12:g.91967037A>G	NCBI36
NG_008341.1:g.33745T>C
NG_008341.2:g.33745T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2635T>C MANE Select	ENSP00000248633.4:p.Leu879=
ENST00000248633.8:c.2635T>C	ENSP00000248633.4:p.Leu879=
ENST00000428214.5:c.2464T>C	ENSP00000394413.1:p.Leu822=
ENST00000438045.5:c.1669T>C	ENSP00000410438.1:p.Leu557=
ENST00000484913.5:n.2674T>C
ENST00000496420.5:n.2527T>C
NM_000466.2:c.2635T>C	NP_000457.1:p.Leu879=
NM_001282677.1:c.2464T>C	NP_001269606.1:p.Leu822=
NM_001282678.1:c.2011T>C	NP_001269607.1:p.Leu671=
XM_005250433.3:c.886T>C	XP_005250490.1:p.Leu296=
XR_242246.3:n.2731T>C
XM_017012319.2:c.886T>C	XP_016867808.1:p.Leu296=
XR_001744808.2:n.1662T>C
XR_242246.5:n.2682T>C
NM_000466.3:c.2635T>C MANE Select	NP_000457.1:p.Leu879=
NM_001282677.2:c.2464T>C	NP_001269606.1:p.Leu822=
NM_001282678.2:c.2011T>C	NP_001269607.1:p.Leu671=