Canonical Allele Identifier: CA368188718

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92140266T>G (hg19) ; chr7:g.92510952T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510952T>G , CM000669.2:g.92510952T>G	GRCh38
NC_000007.13:g.92140266T>G , CM000669.1:g.92140266T>G	GRCh37
NC_000007.12:g.91978202T>G	NCBI36
NG_008341.1:g.22580A>C
NG_008341.2:g.22580A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1579A>C MANE Select	ENSP00000248633.4:p.Thr527Pro
ENST00000248633.8:c.1579A>C	ENSP00000248633.4:p.Thr527Pro
ENST00000422866.1:c.480A>C
ENST00000428214.5:c.1579A>C	ENSP00000394413.1:p.Thr527Pro
ENST00000438045.5:c.613A>C	ENSP00000410438.1:p.Thr205Pro
ENST00000476923.1:n.340A>C
ENST00000484913.5:n.1618A>C
NM_000466.2:c.1579A>C	NP_000457.1:p.Thr527Pro
NM_001282677.1:c.1579A>C	NP_001269606.1:p.Thr527Pro
NM_001282678.1:c.955A>C	NP_001269607.1:p.Thr319Pro
XM_005250433.3:c.-88A>C	XP_005250490.1:n.-88A>C
XR_242246.3:n.1675A>C
XM_017012319.2:c.-88A>C	XP_016867808.1:n.-88A>C
XR_001744808.2:n.689A>C
XR_242246.5:n.1626A>C
NM_000466.3:c.1579A>C MANE Select	NP_000457.1:p.Thr527Pro
NM_001282677.2:c.1579A>C	NP_001269606.1:p.Thr527Pro
NM_001282678.2:c.955A>C	NP_001269607.1:p.Thr319Pro