Canonical Allele Identifier: CA368173138

Gene: PEX1

Linked Data

• dbSNP Id: rs1791830464
• gnomAD v4: 7-92499712-T-G
• MyVariant Identifiers: chr7:g.92129026T>G (hg19) ; chr7:g.92499712T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499712T>G , CM000669.2:g.92499712T>G	GRCh38
NC_000007.13:g.92129026T>G , CM000669.1:g.92129026T>G	GRCh37
NC_000007.12:g.91966962T>G	NCBI36
NG_008341.1:g.33820A>C
NG_008341.2:g.33820A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2710A>C MANE Select	ENSP00000248633.4:p.Ser904Arg
ENST00000248633.8:c.2710A>C	ENSP00000248633.4:p.Ser904Arg
ENST00000428214.5:c.2539A>C	ENSP00000394413.1:p.Ser847Arg
ENST00000438045.5:c.1744A>C	ENSP00000410438.1:p.Ser582Arg
ENST00000484913.5:n.2749A>C
ENST00000496420.5:n.2602A>C
NM_000466.2:c.2710A>C	NP_000457.1:p.Ser904Arg
NM_001282677.1:c.2539A>C	NP_001269606.1:p.Ser847Arg
NM_001282678.1:c.2086A>C	NP_001269607.1:p.Ser696Arg
XM_005250433.3:c.961A>C	XP_005250490.1:p.Ser321Arg
XR_242246.3:n.2806A>C
XM_017012319.2:c.961A>C	XP_016867808.1:p.Ser321Arg
XR_001744808.2:n.1737A>C
XR_242246.5:n.2757A>C
NM_000466.3:c.2710A>C MANE Select	NP_000457.1:p.Ser904Arg
NM_001282677.2:c.2539A>C	NP_001269606.1:p.Ser847Arg
NM_001282678.2:c.2086A>C	NP_001269607.1:p.Ser696Arg