Canonical Allele Identifier: CA4341575

Gene: PEX1

Linked Data

• dbSNP Id: rs371413721
• ExAC: 7:92147281 C / A
• gnomAD v2: 7-92147281-C-A
• gnomAD v4: 7-92517967-C-A
• MyVariant Identifiers: chr7:g.92147281C>A (hg19) ; chr7:g.92517967C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517967C>A , CM000669.2:g.92517967C>A	GRCh38
NC_000007.13:g.92147281C>A , CM000669.1:g.92147281C>A	GRCh37
NC_000007.12:g.91985217C>A	NCBI36
NG_008341.1:g.15565G>T
NG_008341.2:g.15565G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.548G>T MANE Select	ENSP00000248633.4:p.Arg183Leu
ENST00000248633.8:c.548G>T	ENSP00000248633.4:p.Arg183Leu
ENST00000428214.5:c.548G>T	ENSP00000394413.1:p.Arg183Leu
ENST00000438045.5:c.274-4000G>T	ENSP00000410438.1:n.274-4000G>T
ENST00000484913.5:n.587G>T
NM_000466.2:c.548G>T	NP_000457.1:p.Arg183Leu
NM_001282677.1:c.548G>T	NP_001269606.1:p.Arg183Leu
NM_001282678.1:c.-77G>T	NP_001269607.1:n.-77G>T
XR_242246.3:n.644G>T
XR_242246.5:n.595G>T
NM_000466.3:c.548G>T MANE Select	NP_000457.1:p.Arg183Leu
NM_001282677.2:c.548G>T	NP_001269606.1:p.Arg183Leu
NM_001282678.2:c.-77G>T	NP_001269607.1:n.-77G>T