Canonical Allele Identifier: CA368178710

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92131378T>G (hg19) ; chr7:g.92502064T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502064T>G , CM000669.2:g.92502064T>G	GRCh38
NC_000007.13:g.92131378T>G , CM000669.1:g.92131378T>G	GRCh37
NC_000007.12:g.91969314T>G	NCBI36
NG_008341.1:g.31468A>C
NG_008341.2:g.31468A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2242A>C MANE Select	ENSP00000248633.4:p.Ile748Leu
ENST00000248633.8:c.2242A>C	ENSP00000248633.4:p.Ile748Leu
ENST00000428214.5:c.2071A>C	ENSP00000394413.1:p.Ile691Leu
ENST00000438045.5:c.1276A>C	ENSP00000410438.1:p.Ile426Leu
ENST00000484913.5:n.2281A>C
ENST00000496092.1:n.40A>C
ENST00000496420.5:n.1918A>C
NM_000466.2:c.2242A>C	NP_000457.1:p.Ile748Leu
NM_001282677.1:c.2071A>C	NP_001269606.1:p.Ile691Leu
NM_001282678.1:c.1618A>C	NP_001269607.1:p.Ile540Leu
XM_005250433.3:c.493A>C	XP_005250490.1:p.Ile165Leu
XR_242246.3:n.2338A>C
XM_017012319.2:c.493A>C	XP_016867808.1:p.Ile165Leu
XR_001744808.2:n.1269A>C
XR_242246.5:n.2289A>C
NM_000466.3:c.2242A>C MANE Select	NP_000457.1:p.Ile748Leu
NM_001282677.2:c.2071A>C	NP_001269606.1:p.Ile691Leu
NM_001282678.2:c.1618A>C	NP_001269607.1:p.Ile540Leu