Canonical Allele Identifier: CA368173929

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92129099C>A (hg19) ; chr7:g.92499785C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499785C>A , CM000669.2:g.92499785C>A	GRCh38
NC_000007.13:g.92129099C>A , CM000669.1:g.92129099C>A	GRCh37
NC_000007.12:g.91967035C>A	NCBI36
NG_008341.1:g.33747G>T
NG_008341.2:g.33747G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2637G>T MANE Select	ENSP00000248633.4:p.Leu879Phe
ENST00000248633.8:c.2637G>T	ENSP00000248633.4:p.Leu879Phe
ENST00000428214.5:c.2466G>T	ENSP00000394413.1:p.Leu822Phe
ENST00000438045.5:c.1671G>T	ENSP00000410438.1:p.Leu557Phe
ENST00000484913.5:n.2676G>T
ENST00000496420.5:n.2529G>T
NM_000466.2:c.2637G>T	NP_000457.1:p.Leu879Phe
NM_001282677.1:c.2466G>T	NP_001269606.1:p.Leu822Phe
NM_001282678.1:c.2013G>T	NP_001269607.1:p.Leu671Phe
XM_005250433.3:c.888G>T	XP_005250490.1:p.Leu296Phe
XR_242246.3:n.2733G>T
XM_017012319.2:c.888G>T	XP_016867808.1:p.Leu296Phe
XR_001744808.2:n.1664G>T
XR_242246.5:n.2684G>T
NM_000466.3:c.2637G>T MANE Select	NP_000457.1:p.Leu879Phe
NM_001282677.2:c.2466G>T	NP_001269606.1:p.Leu822Phe
NM_001282678.2:c.2013G>T	NP_001269607.1:p.Leu671Phe