Canonical Allele Identifier: CA368177908

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131308T>A (hg19) ; chr7:g.92501994T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501994T>A , CM000669.2:g.92501994T>A	GRCh38
NC_000007.13:g.92131308T>A , CM000669.1:g.92131308T>A	GRCh37
NC_000007.12:g.91969244T>A	NCBI36
NG_008341.1:g.31538A>T
NG_008341.2:g.31538A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2312A>T MANE Select	ENSP00000248633.4:p.His771Leu
ENST00000248633.8:c.2312A>T	ENSP00000248633.4:p.His771Leu
ENST00000428214.5:c.2141A>T	ENSP00000394413.1:p.His714Leu
ENST00000438045.5:c.1346A>T	ENSP00000410438.1:p.His449Leu
ENST00000484913.5:n.2351A>T
ENST00000496092.1:n.110A>T
ENST00000496420.5:n.1988A>T
NM_000466.2:c.2312A>T	NP_000457.1:p.His771Leu
NM_001282677.1:c.2141A>T	NP_001269606.1:p.His714Leu
NM_001282678.1:c.1688A>T	NP_001269607.1:p.His563Leu
XM_005250433.3:c.563A>T	XP_005250490.1:p.His188Leu
XR_242246.3:n.2408A>T
XM_017012319.2:c.563A>T	XP_016867808.1:p.His188Leu
XR_001744808.2:n.1339A>T
XR_242246.5:n.2359A>T
NM_000466.3:c.2312A>T MANE Select	NP_000457.1:p.His771Leu
NM_001282677.2:c.2141A>T	NP_001269606.1:p.His714Leu
NM_001282678.2:c.1688A>T	NP_001269607.1:p.His563Leu