Canonical Allele Identifier: CA368181490

Gene: PEX1

Linked Data

• COSMIC: COSM3642268
• MyVariant Identifiers: chr7:g.92132403T>G (hg19) ; chr7:g.92503089T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503089T>G , CM000669.2:g.92503089T>G	GRCh38
NC_000007.13:g.92132403T>G , CM000669.1:g.92132403T>G	GRCh37
NC_000007.12:g.91970339T>G	NCBI36
NG_008341.1:g.30443A>C
NG_008341.2:g.30443A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2178A>C MANE Select	ENSP00000248633.4:p.Gln726His
ENST00000248633.8:c.2178A>C	ENSP00000248633.4:p.Gln726His
ENST00000428214.5:c.2007A>C	ENSP00000394413.1:p.Gln669His
ENST00000438045.5:c.1212A>C	ENSP00000410438.1:p.Gln404His
ENST00000484913.5:n.2217A>C
ENST00000496420.5:n.1854A>C
NM_000466.2:c.2178A>C	NP_000457.1:p.Gln726His
NM_001282677.1:c.2007A>C	NP_001269606.1:p.Gln669His
NM_001282678.1:c.1554A>C	NP_001269607.1:p.Gln518His
XM_005250433.3:c.429A>C	XP_005250490.1:p.Gln143His
XR_242246.3:n.2274A>C
XM_017012319.2:c.429A>C	XP_016867808.1:p.Gln143His
XR_001744808.2:n.1205A>C
XR_242246.5:n.2225A>C
NM_000466.3:c.2178A>C MANE Select	NP_000457.1:p.Gln726His
NM_001282677.2:c.2007A>C	NP_001269606.1:p.Gln669His
NM_001282678.2:c.1554A>C	NP_001269607.1:p.Gln518His