Canonical Allele Identifier: CA161973596

Gene: PEX1

Linked Data

• dbSNP Id: rs866166719
• gnomAD v4: 7-92517643-T-C
• MyVariant Identifiers: chr7:g.92146957T>C (hg19) ; chr7:g.92517643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517643T>C , CM000669.2:g.92517643T>C	GRCh38
NC_000007.13:g.92146957T>C , CM000669.1:g.92146957T>C	GRCh37
NC_000007.12:g.91984893T>C	NCBI36
NG_008341.1:g.15889A>G
NG_008341.2:g.15889A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.872A>G MANE Select	ENSP00000248633.4:p.Lys291Arg
ENST00000248633.8:c.872A>G	ENSP00000248633.4:p.Lys291Arg
ENST00000428214.5:c.872A>G	ENSP00000394413.1:p.Lys291Arg
ENST00000438045.5:c.274-3676A>G	ENSP00000410438.1:n.274-3676A>G
ENST00000484913.5:n.911A>G
NM_000466.2:c.872A>G	NP_000457.1:p.Lys291Arg
NM_001282677.1:c.872A>G	NP_001269606.1:p.Lys291Arg
NM_001282678.1:c.248A>G	NP_001269607.1:p.Lys83Arg
XR_242246.3:n.968A>G
XR_242246.5:n.919A>G
NM_000466.3:c.872A>G MANE Select	NP_000457.1:p.Lys291Arg
NM_001282677.2:c.872A>G	NP_001269606.1:p.Lys291Arg
NM_001282678.2:c.248A>G	NP_001269607.1:p.Lys83Arg