Canonical Allele Identifier: CA368185530

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92135654C>A (hg19) ; chr7:g.92506340C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506340C>A , CM000669.2:g.92506340C>A	GRCh38
NC_000007.13:g.92135654C>A , CM000669.1:g.92135654C>A	GRCh37
NC_000007.12:g.91973590C>A	NCBI36
NG_008341.1:g.27192G>T
NG_008341.2:g.27192G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1808G>T MANE Select	ENSP00000248633.4:p.Ser603Ile
ENST00000248633.8:c.1808G>T	ENSP00000248633.4:p.Ser603Ile
ENST00000422866.1:c.626G>T
ENST00000428214.5:c.1808G>T	ENSP00000394413.1:p.Ser603Ile
ENST00000438045.5:c.842G>T	ENSP00000410438.1:p.Ser281Ile
ENST00000484913.5:n.1847G>T
ENST00000496420.5:n.1484G>T
NM_000466.2:c.1808G>T	NP_000457.1:p.Ser603Ile
NM_001282677.1:c.1808G>T	NP_001269606.1:p.Ser603Ile
NM_001282678.1:c.1184G>T	NP_001269607.1:p.Ser395Ile
XM_005250433.3:c.59G>T	XP_005250490.1:p.Ser20Ile
XR_242246.3:n.1904G>T
XM_017012319.2:c.59G>T	XP_016867808.1:p.Ser20Ile
XR_001744808.2:n.835G>T
XR_242246.5:n.1855G>T
NM_000466.3:c.1808G>T MANE Select	NP_000457.1:p.Ser603Ile
NM_001282677.2:c.1808G>T	NP_001269606.1:p.Ser603Ile
NM_001282678.2:c.1184G>T	NP_001269607.1:p.Ser395Ile