Canonical Allele Identifier: CA368203205

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92148367A>G (hg19) ; chr7:g.92519053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519053A>G , CM000669.2:g.92519053A>G	GRCh38
NC_000007.13:g.92148367A>G , CM000669.1:g.92148367A>G	GRCh37
NC_000007.12:g.91986303A>G	NCBI36
NG_008341.1:g.14479T>C
NG_008341.2:g.14479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.299T>C MANE Select	ENSP00000248633.4:p.Val100Ala
ENST00000248633.8:c.299T>C	ENSP00000248633.4:p.Val100Ala
ENST00000428214.5:c.299T>C	ENSP00000394413.1:p.Val100Ala
ENST00000438045.5:c.273+3049T>C	ENSP00000410438.1:n.273+3049T>C
ENST00000484913.5:n.303T>C
NM_000466.2:c.299T>C	NP_000457.1:p.Val100Ala
NM_001282677.1:c.299T>C	NP_001269606.1:p.Val100Ala
NM_001282678.1:c.-361T>C	NP_001269607.1:n.-361T>C
XR_242246.3:n.395T>C
XR_242246.5:n.346T>C
NM_000466.3:c.299T>C MANE Select	NP_000457.1:p.Val100Ala
NM_001282677.2:c.299T>C	NP_001269606.1:p.Val100Ala
NM_001282678.2:c.-361T>C	NP_001269607.1:n.-361T>C