Canonical Allele Identifier: CA161964818

Gene: PEX1

Linked Data

• dbSNP Id: rs1056709151
• gnomAD v4: 7-92504900-T-C
• MyVariant Identifiers: chr7:g.92134214T>C (hg19) ; chr7:g.92504900T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504900T>C , CM000669.2:g.92504900T>C	GRCh38
NC_000007.13:g.92134214T>C , CM000669.1:g.92134214T>C	GRCh37
NC_000007.12:g.91972150T>C	NCBI36
NG_008341.1:g.28632A>G
NG_008341.2:g.28632A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1903A>G MANE Select	ENSP00000248633.4:p.Lys635Glu
ENST00000248633.8:c.1903A>G	ENSP00000248633.4:p.Lys635Glu
ENST00000422866.1:c.721A>G
ENST00000428214.5:c.1900+1348A>G	ENSP00000394413.1:n.1900+1348A>G
ENST00000438045.5:c.937A>G	ENSP00000410438.1:p.Lys313Glu
ENST00000484913.5:n.1942A>G
ENST00000496420.5:n.1579A>G
NM_000466.2:c.1903A>G	NP_000457.1:p.Lys635Glu
NM_001282677.1:c.1900+1348A>G	NP_001269606.1:n.1900+1348A>G
NM_001282678.1:c.1279A>G	NP_001269607.1:p.Lys427Glu
XM_005250433.3:c.154A>G	XP_005250490.1:p.Lys52Glu
XR_242246.3:n.1999A>G
XM_017012319.2:c.154A>G	XP_016867808.1:p.Lys52Glu
XR_001744808.2:n.930A>G
XR_242246.5:n.1950A>G
NM_000466.3:c.1903A>G MANE Select	NP_000457.1:p.Lys635Glu
NM_001282677.2:c.1900+1348A>G	NP_001269606.1:n.1900+1348A>G
NM_001282678.2:c.1279A>G	NP_001269607.1:p.Lys427Glu