Canonical Allele Identifier: CA161963543

Gene: PEX1

Linked Data

• dbSNP Id: rs991552620
• MyVariant Identifiers: chr7:g.92132385C>G (hg19) ; chr7:g.92503071C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503071C>G , CM000669.2:g.92503071C>G	GRCh38
NC_000007.13:g.92132385C>G , CM000669.1:g.92132385C>G	GRCh37
NC_000007.12:g.91970321C>G	NCBI36
NG_008341.1:g.30461G>C
NG_008341.2:g.30461G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2196G>C MANE Select	ENSP00000248633.4:p.Gln732His
ENST00000248633.8:c.2196G>C	ENSP00000248633.4:p.Gln732His
ENST00000428214.5:c.2025G>C	ENSP00000394413.1:p.Gln675His
ENST00000438045.5:c.1230G>C	ENSP00000410438.1:p.Gln410His
ENST00000484913.5:n.2235G>C
ENST00000496420.5:n.1872G>C
NM_000466.2:c.2196G>C	NP_000457.1:p.Gln732His
NM_001282677.1:c.2025G>C	NP_001269606.1:p.Gln675His
NM_001282678.1:c.1572G>C	NP_001269607.1:p.Gln524His
XM_005250433.3:c.447G>C	XP_005250490.1:p.Gln149His
XR_242246.3:n.2292G>C
XM_017012319.2:c.447G>C	XP_016867808.1:p.Gln149His
XR_001744808.2:n.1223G>C
XR_242246.5:n.2243G>C
NM_000466.3:c.2196G>C MANE Select	NP_000457.1:p.Gln732His
NM_001282677.2:c.2025G>C	NP_001269606.1:p.Gln675His
NM_001282678.2:c.1572G>C	NP_001269607.1:p.Gln524His