Canonical Allele Identifier: CA456623740

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517342-A-C
• MyVariant Identifiers: chr7:g.92146656A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517342A>C , CM000669.2:g.92517342A>C	GRCh38
NC_000007.13:g.92146656A>C , CM000669.1:g.92146656A>C	GRCh37
NC_000007.12:g.91984592A>C	NCBI36
NG_008341.1:g.16190T>G
NG_008341.2:g.16190T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1173T>G MANE Select	ENSP00000248633.4:p.Leu391=
ENST00000248633.8:c.1173T>G	ENSP00000248633.4:p.Leu391=
ENST00000422866.1:c.74T>G
ENST00000428214.5:c.1173T>G	ENSP00000394413.1:p.Leu391=
ENST00000438045.5:c.274-3375T>G	ENSP00000410438.1:n.274-3375T>G
ENST00000484913.5:n.1212T>G
NM_000466.2:c.1173T>G	NP_000457.1:p.Leu391=
NM_001282677.1:c.1173T>G	NP_001269606.1:p.Leu391=
NM_001282678.1:c.549T>G	NP_001269607.1:p.Leu183=
XR_242246.3:n.1269T>G
XM_017012319.2:c.-494T>G	XP_016867808.1:n.-494T>G
XR_001744808.2:n.283T>G
XR_242246.5:n.1220T>G
NM_000466.3:c.1173T>G MANE Select	NP_000457.1:p.Leu391=
NM_001282677.2:c.1173T>G	NP_001269606.1:p.Leu391=
NM_001282678.2:c.549T>G	NP_001269607.1:p.Leu183=