Canonical Allele Identifier: CA368202903

Gene: PEX1

Linked Data

• gnomAD v4: 7-92519006-A-G
• MyVariant Identifiers: chr7:g.92148320A>G (hg19) ; chr7:g.92519006A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519006A>G , CM000669.2:g.92519006A>G	GRCh38
NC_000007.13:g.92148320A>G , CM000669.1:g.92148320A>G	GRCh37
NC_000007.12:g.91986256A>G	NCBI36
NG_008341.1:g.14526T>C
NG_008341.2:g.14526T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.346T>C MANE Select	ENSP00000248633.4:p.Trp116Arg
ENST00000248633.8:c.346T>C	ENSP00000248633.4:p.Trp116Arg
ENST00000428214.5:c.346T>C	ENSP00000394413.1:p.Trp116Arg
ENST00000438045.5:c.273+3096T>C	ENSP00000410438.1:n.273+3096T>C
ENST00000484913.5:n.350T>C
NM_000466.2:c.346T>C	NP_000457.1:p.Trp116Arg
NM_001282677.1:c.346T>C	NP_001269606.1:p.Trp116Arg
NM_001282678.1:c.-314T>C	NP_001269607.1:n.-314T>C
XR_242246.3:n.442T>C
XR_242246.5:n.393T>C
NM_000466.3:c.346T>C MANE Select	NP_000457.1:p.Trp116Arg
NM_001282677.2:c.346T>C	NP_001269606.1:p.Trp116Arg
NM_001282678.2:c.-314T>C	NP_001269607.1:n.-314T>C