Canonical Allele Identifier: CA368197819

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146692C>G (hg19) ; chr7:g.92517378C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517378C>G , CM000669.2:g.92517378C>G	GRCh38
NC_000007.13:g.92146692C>G , CM000669.1:g.92146692C>G	GRCh37
NC_000007.12:g.91984628C>G	NCBI36
NG_008341.1:g.16154G>C
NG_008341.2:g.16154G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1137G>C MANE Select	ENSP00000248633.4:p.Glu379Asp
ENST00000248633.8:c.1137G>C	ENSP00000248633.4:p.Glu379Asp
ENST00000422866.1:c.38G>C
ENST00000428214.5:c.1137G>C	ENSP00000394413.1:p.Glu379Asp
ENST00000438045.5:c.274-3411G>C	ENSP00000410438.1:n.274-3411G>C
ENST00000484913.5:n.1176G>C
NM_000466.2:c.1137G>C	NP_000457.1:p.Glu379Asp
NM_001282677.1:c.1137G>C	NP_001269606.1:p.Glu379Asp
NM_001282678.1:c.513G>C	NP_001269607.1:p.Glu171Asp
XR_242246.3:n.1233G>C
XM_017012319.2:c.-530G>C	XP_016867808.1:n.-530G>C
XR_001744808.2:n.247G>C
XR_242246.5:n.1184G>C
NM_000466.3:c.1137G>C MANE Select	NP_000457.1:p.Glu379Asp
NM_001282677.2:c.1137G>C	NP_001269606.1:p.Glu379Asp
NM_001282678.2:c.513G>C	NP_001269607.1:p.Glu171Asp