Canonical Allele Identifier: CA368187125

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92136312C>G (hg19) ; chr7:g.92506998C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506998C>G , CM000669.2:g.92506998C>G	GRCh38
NC_000007.13:g.92136312C>G , CM000669.1:g.92136312C>G	GRCh37
NC_000007.12:g.91974248C>G	NCBI36
NG_008341.1:g.26534G>C
NG_008341.2:g.26534G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1799G>C MANE Select	ENSP00000248633.4:p.Gly600Ala
ENST00000248633.8:c.1799G>C	ENSP00000248633.4:p.Gly600Ala
ENST00000422866.1:c.617G>C
ENST00000428214.5:c.1799G>C	ENSP00000394413.1:p.Gly600Ala
ENST00000438045.5:c.833G>C	ENSP00000410438.1:p.Gly278Ala
ENST00000484913.5:n.1838G>C
ENST00000496420.5:n.826G>C
NM_000466.2:c.1799G>C	NP_000457.1:p.Gly600Ala
NM_001282677.1:c.1799G>C	NP_001269606.1:p.Gly600Ala
NM_001282678.1:c.1175G>C	NP_001269607.1:p.Gly392Ala
XM_005250433.3:c.50G>C	XP_005250490.1:p.Gly17Ala
XR_242246.3:n.1895G>C
XM_017012319.2:c.50G>C	XP_016867808.1:p.Gly17Ala
XR_001744808.2:n.826G>C
XR_242246.5:n.1846G>C
NM_000466.3:c.1799G>C MANE Select	NP_000457.1:p.Gly600Ala
NM_001282677.2:c.1799G>C	NP_001269606.1:p.Gly600Ala
NM_001282678.2:c.1175G>C	NP_001269607.1:p.Gly392Ala