Canonical Allele Identifier: CA456481983

Gene: PEX1

Linked Data

• dbSNP Id: rs1455186626
• MyVariant Identifiers: chr7:g.92129078T>C (hg19) ; chr7:g.92499764T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499764T>C , CM000669.2:g.92499764T>C	GRCh38
NC_000007.13:g.92129078T>C , CM000669.1:g.92129078T>C	GRCh37
NC_000007.12:g.91967014T>C	NCBI36
NG_008341.1:g.33768A>G
NG_008341.2:g.33768A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2658A>G MANE Select	ENSP00000248633.4:p.Gly886=
ENST00000248633.8:c.2658A>G	ENSP00000248633.4:p.Gly886=
ENST00000428214.5:c.2487A>G	ENSP00000394413.1:p.Gly829=
ENST00000438045.5:c.1692A>G	ENSP00000410438.1:p.Gly564=
ENST00000484913.5:n.2697A>G
ENST00000496420.5:n.2550A>G
NM_000466.2:c.2658A>G	NP_000457.1:p.Gly886=
NM_001282677.1:c.2487A>G	NP_001269606.1:p.Gly829=
NM_001282678.1:c.2034A>G	NP_001269607.1:p.Gly678=
XM_005250433.3:c.909A>G	XP_005250490.1:p.Gly303=
XR_242246.3:n.2754A>G
XM_017012319.2:c.909A>G	XP_016867808.1:p.Gly303=
XR_001744808.2:n.1685A>G
XR_242246.5:n.2705A>G
NM_000466.3:c.2658A>G MANE Select	NP_000457.1:p.Gly886=
NM_001282677.2:c.2487A>G	NP_001269606.1:p.Gly829=
NM_001282678.2:c.2034A>G	NP_001269607.1:p.Gly678=