Canonical Allele Identifier: CA368185108

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92135622T>G (hg19) ; chr7:g.92506308T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506308T>G , CM000669.2:g.92506308T>G	GRCh38
NC_000007.13:g.92135622T>G , CM000669.1:g.92135622T>G	GRCh37
NC_000007.12:g.91973558T>G	NCBI36
NG_008341.1:g.27224A>C
NG_008341.2:g.27224A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1840A>C MANE Select	ENSP00000248633.4:p.Lys614Gln
ENST00000248633.8:c.1840A>C	ENSP00000248633.4:p.Lys614Gln
ENST00000422866.1:c.658A>C
ENST00000428214.5:c.1840A>C	ENSP00000394413.1:p.Lys614Gln
ENST00000438045.5:c.874A>C	ENSP00000410438.1:p.Lys292Gln
ENST00000484913.5:n.1879A>C
ENST00000496420.5:n.1516A>C
NM_000466.2:c.1840A>C	NP_000457.1:p.Lys614Gln
NM_001282677.1:c.1840A>C	NP_001269606.1:p.Lys614Gln
NM_001282678.1:c.1216A>C	NP_001269607.1:p.Lys406Gln
XM_005250433.3:c.91A>C	XP_005250490.1:p.Lys31Gln
XR_242246.3:n.1936A>C
XM_017012319.2:c.91A>C	XP_016867808.1:p.Lys31Gln
XR_001744808.2:n.867A>C
XR_242246.5:n.1887A>C
NM_000466.3:c.1840A>C MANE Select	NP_000457.1:p.Lys614Gln
NM_001282677.2:c.1840A>C	NP_001269606.1:p.Lys614Gln
NM_001282678.2:c.1216A>C	NP_001269607.1:p.Lys406Gln