Canonical Allele Identifier: CA368183975

Gene: PEX1

Linked Data

• COSMIC: COSM3642269
• MyVariant Identifiers: chr7:g.92134177G>A (hg19) ; chr7:g.92504863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504863G>A , CM000669.2:g.92504863G>A	GRCh38
NC_000007.13:g.92134177G>A , CM000669.1:g.92134177G>A	GRCh37
NC_000007.12:g.91972113G>A	NCBI36
NG_008341.1:g.28669C>T
NG_008341.2:g.28669C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1940C>T MANE Select	ENSP00000248633.4:p.Ala647Val
ENST00000248633.8:c.1940C>T	ENSP00000248633.4:p.Ala647Val
ENST00000428214.5:c.1900+1385C>T	ENSP00000394413.1:n.1900+1385C>T
ENST00000438045.5:c.974C>T	ENSP00000410438.1:p.Ala325Val
ENST00000484913.5:n.1979C>T
ENST00000496420.5:n.1616C>T
NM_000466.2:c.1940C>T	NP_000457.1:p.Ala647Val
NM_001282677.1:c.1900+1385C>T	NP_001269606.1:n.1900+1385C>T
NM_001282678.1:c.1316C>T	NP_001269607.1:p.Ala439Val
XM_005250433.3:c.191C>T	XP_005250490.1:p.Ala64Val
XR_242246.3:n.2036C>T
XM_017012319.2:c.191C>T	XP_016867808.1:p.Ala64Val
XR_001744808.2:n.967C>T
XR_242246.5:n.1987C>T
NM_000466.3:c.1940C>T MANE Select	NP_000457.1:p.Ala647Val
NM_001282677.2:c.1900+1385C>T	NP_001269606.1:n.1900+1385C>T
NM_001282678.2:c.1316C>T	NP_001269607.1:p.Ala439Val