Canonical Allele Identifier: CA368199906

Gene: PEX1

Linked Data

• dbSNP Id: rs1792865258
• gnomAD v4: 7-92517737-T-G
• MyVariant Identifiers: chr7:g.92147051T>G (hg19) ; chr7:g.92517737T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517737T>G , CM000669.2:g.92517737T>G	GRCh38
NC_000007.13:g.92147051T>G , CM000669.1:g.92147051T>G	GRCh37
NC_000007.12:g.91984987T>G	NCBI36
NG_008341.1:g.15795A>C
NG_008341.2:g.15795A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.778A>C MANE Select	ENSP00000248633.4:p.Lys260Gln
ENST00000248633.8:c.778A>C	ENSP00000248633.4:p.Lys260Gln
ENST00000428214.5:c.778A>C	ENSP00000394413.1:p.Lys260Gln
ENST00000438045.5:c.274-3770A>C	ENSP00000410438.1:n.274-3770A>C
ENST00000484913.5:n.817A>C
NM_000466.2:c.778A>C	NP_000457.1:p.Lys260Gln
NM_001282677.1:c.778A>C	NP_001269606.1:p.Lys260Gln
NM_001282678.1:c.154A>C	NP_001269607.1:p.Lys52Gln
XR_242246.3:n.874A>C
XR_242246.5:n.825A>C
NM_000466.3:c.778A>C MANE Select	NP_000457.1:p.Lys260Gln
NM_001282677.2:c.778A>C	NP_001269606.1:p.Lys260Gln
NM_001282678.2:c.154A>C	NP_001269607.1:p.Lys52Gln