Canonical Allele Identifier: CA456482000

Gene: PEX1

Linked Data

• dbSNP Id: rs1193232549
• gnomAD v3: 7-92499788-C-G
• gnomAD v4: 7-92499788-C-G
• MyVariant Identifiers: chr7:g.92129102C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499788C>G , CM000669.2:g.92499788C>G	GRCh38
NC_000007.13:g.92129102C>G , CM000669.1:g.92129102C>G	GRCh37
NC_000007.12:g.91967038C>G	NCBI36
NG_008341.1:g.33744G>C
NG_008341.2:g.33744G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2634G>C MANE Select	ENSP00000248633.4:p.Leu878=
ENST00000248633.8:c.2634G>C	ENSP00000248633.4:p.Leu878=
ENST00000428214.5:c.2463G>C	ENSP00000394413.1:p.Leu821=
ENST00000438045.5:c.1668G>C	ENSP00000410438.1:p.Leu556=
ENST00000484913.5:n.2673G>C
ENST00000496420.5:n.2526G>C
NM_000466.2:c.2634G>C	NP_000457.1:p.Leu878=
NM_001282677.1:c.2463G>C	NP_001269606.1:p.Leu821=
NM_001282678.1:c.2010G>C	NP_001269607.1:p.Leu670=
XM_005250433.3:c.885G>C	XP_005250490.1:p.Leu295=
XR_242246.3:n.2730G>C
XM_017012319.2:c.885G>C	XP_016867808.1:p.Leu295=
XR_001744808.2:n.1661G>C
XR_242246.5:n.2681G>C
NM_000466.3:c.2634G>C MANE Select	NP_000457.1:p.Leu878=
NM_001282677.2:c.2463G>C	NP_001269606.1:p.Leu821=
NM_001282678.2:c.2010G>C	NP_001269607.1:p.Leu670=