Canonical Allele Identifier: CA368185491

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92135651C>G (hg19) ; chr7:g.92506337C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506337C>G , CM000669.2:g.92506337C>G	GRCh38
NC_000007.13:g.92135651C>G , CM000669.1:g.92135651C>G	GRCh37
NC_000007.12:g.91973587C>G	NCBI36
NG_008341.1:g.27195G>C
NG_008341.2:g.27195G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1811G>C MANE Select	ENSP00000248633.4:p.Gly604Ala
ENST00000248633.8:c.1811G>C	ENSP00000248633.4:p.Gly604Ala
ENST00000422866.1:c.629G>C
ENST00000428214.5:c.1811G>C	ENSP00000394413.1:p.Gly604Ala
ENST00000438045.5:c.845G>C	ENSP00000410438.1:p.Gly282Ala
ENST00000484913.5:n.1850G>C
ENST00000496420.5:n.1487G>C
NM_000466.2:c.1811G>C	NP_000457.1:p.Gly604Ala
NM_001282677.1:c.1811G>C	NP_001269606.1:p.Gly604Ala
NM_001282678.1:c.1187G>C	NP_001269607.1:p.Gly396Ala
XM_005250433.3:c.62G>C	XP_005250490.1:p.Gly21Ala
XR_242246.3:n.1907G>C
XM_017012319.2:c.62G>C	XP_016867808.1:p.Gly21Ala
XR_001744808.2:n.838G>C
XR_242246.5:n.1858G>C
NM_000466.3:c.1811G>C MANE Select	NP_000457.1:p.Gly604Ala
NM_001282677.2:c.1811G>C	NP_001269606.1:p.Gly604Ala
NM_001282678.2:c.1187G>C	NP_001269607.1:p.Gly396Ala