Canonical Allele Identifier: CA4341157

Gene: PEX1

Linked Data

• dbSNP Id: rs754561360
• ExAC: 7:92131313 C / T
• gnomAD v2: 7-92131313-C-T
• gnomAD v4: 7-92501999-C-T
• MyVariant Identifiers: chr7:g.92131313C>T (hg19) ; chr7:g.92501999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501999C>T , CM000669.2:g.92501999C>T	GRCh38
NC_000007.13:g.92131313C>T , CM000669.1:g.92131313C>T	GRCh37
NC_000007.12:g.91969249C>T	NCBI36
NG_008341.1:g.31533G>A
NG_008341.2:g.31533G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2307G>A MANE Select	ENSP00000248633.4:p.Leu769=
ENST00000248633.8:c.2307G>A	ENSP00000248633.4:p.Leu769=
ENST00000428214.5:c.2136G>A	ENSP00000394413.1:p.Leu712=
ENST00000438045.5:c.1341G>A	ENSP00000410438.1:p.Leu447=
ENST00000484913.5:n.2346G>A
ENST00000496092.1:n.105G>A
ENST00000496420.5:n.1983G>A
NM_000466.2:c.2307G>A	NP_000457.1:p.Leu769=
NM_001282677.1:c.2136G>A	NP_001269606.1:p.Leu712=
NM_001282678.1:c.1683G>A	NP_001269607.1:p.Leu561=
XM_005250433.3:c.558G>A	XP_005250490.1:p.Leu186=
XR_242246.3:n.2403G>A
XM_017012319.2:c.558G>A	XP_016867808.1:p.Leu186=
XR_001744808.2:n.1334G>A
XR_242246.5:n.2354G>A
NM_000466.3:c.2307G>A MANE Select	NP_000457.1:p.Leu769=
NM_001282677.2:c.2136G>A	NP_001269606.1:p.Leu712=
NM_001282678.2:c.1683G>A	NP_001269607.1:p.Leu561=