Canonical Allele Identifier: CA456483712

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92140282A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510968A>G , CM000669.2:g.92510968A>G	GRCh38
NC_000007.13:g.92140282A>G , CM000669.1:g.92140282A>G	GRCh37
NC_000007.12:g.91978218A>G	NCBI36
NG_008341.1:g.22564T>C
NG_008341.2:g.22564T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1563T>C MANE Select	ENSP00000248633.4:p.Asn521=
ENST00000248633.8:c.1563T>C	ENSP00000248633.4:p.Asn521=
ENST00000422866.1:c.464T>C
ENST00000428214.5:c.1563T>C	ENSP00000394413.1:p.Asn521=
ENST00000438045.5:c.597T>C	ENSP00000410438.1:p.Asn199=
ENST00000476923.1:n.324T>C
ENST00000484913.5:n.1602T>C
NM_000466.2:c.1563T>C	NP_000457.1:p.Asn521=
NM_001282677.1:c.1563T>C	NP_001269606.1:p.Asn521=
NM_001282678.1:c.939T>C	NP_001269607.1:p.Asn313=
XM_005250433.3:c.-104T>C	XP_005250490.1:n.-104T>C
XR_242246.3:n.1659T>C
XM_017012319.2:c.-104T>C	XP_016867808.1:n.-104T>C
XR_001744808.2:n.673T>C
XR_242246.5:n.1610T>C
NM_000466.3:c.1563T>C MANE Select	NP_000457.1:p.Asn521=
NM_001282677.2:c.1563T>C	NP_001269606.1:p.Asn521=
NM_001282678.2:c.939T>C	NP_001269607.1:p.Asn313=