Canonical Allele Identifier: CA368184660

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92135579T>C (hg19) ; chr7:g.92506265T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506265T>C , CM000669.2:g.92506265T>C	GRCh38
NC_000007.13:g.92135579T>C , CM000669.1:g.92135579T>C	GRCh37
NC_000007.12:g.91973515T>C	NCBI36
NG_008341.1:g.27267A>G
NG_008341.2:g.27267A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1883A>G MANE Select	ENSP00000248633.4:p.Asp628Gly
ENST00000248633.8:c.1883A>G	ENSP00000248633.4:p.Asp628Gly
ENST00000422866.1:c.701A>G
ENST00000428214.5:c.1883A>G	ENSP00000394413.1:p.Asp628Gly
ENST00000438045.5:c.917A>G	ENSP00000410438.1:p.Asp306Gly
ENST00000484913.5:n.1922A>G
ENST00000496420.5:n.1559A>G
NM_000466.2:c.1883A>G	NP_000457.1:p.Asp628Gly
NM_001282677.1:c.1883A>G	NP_001269606.1:p.Asp628Gly
NM_001282678.1:c.1259A>G	NP_001269607.1:p.Asp420Gly
XM_005250433.3:c.134A>G	XP_005250490.1:p.Asp45Gly
XR_242246.3:n.1979A>G
XM_017012319.2:c.134A>G	XP_016867808.1:p.Asp45Gly
XR_001744808.2:n.910A>G
XR_242246.5:n.1930A>G
NM_000466.3:c.1883A>G MANE Select	NP_000457.1:p.Asp628Gly
NM_001282677.2:c.1883A>G	NP_001269606.1:p.Asp628Gly
NM_001282678.2:c.1259A>G	NP_001269607.1:p.Asp420Gly