Canonical Allele Identifier: CA368201267

Gene: PEX1

Linked Data

• dbSNP Id: rs1792876698
• MyVariant Identifiers: chr7:g.92147275T>C (hg19) ; chr7:g.92517961T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517961T>C , CM000669.2:g.92517961T>C	GRCh38
NC_000007.13:g.92147275T>C , CM000669.1:g.92147275T>C	GRCh37
NC_000007.12:g.91985211T>C	NCBI36
NG_008341.1:g.15571A>G
NG_008341.2:g.15571A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.554A>G MANE Select	ENSP00000248633.4:p.Lys185Arg
ENST00000248633.8:c.554A>G	ENSP00000248633.4:p.Lys185Arg
ENST00000428214.5:c.554A>G	ENSP00000394413.1:p.Lys185Arg
ENST00000438045.5:c.274-3994A>G	ENSP00000410438.1:n.274-3994A>G
ENST00000484913.5:n.593A>G
NM_000466.2:c.554A>G	NP_000457.1:p.Lys185Arg
NM_001282677.1:c.554A>G	NP_001269606.1:p.Lys185Arg
NM_001282678.1:c.-71A>G	NP_001269607.1:n.-71A>G
XR_242246.3:n.650A>G
XR_242246.5:n.601A>G
NM_000466.3:c.554A>G MANE Select	NP_000457.1:p.Lys185Arg
NM_001282677.2:c.554A>G	NP_001269606.1:p.Lys185Arg
NM_001282678.2:c.-71A>G	NP_001269607.1:n.-71A>G