Canonical Allele Identifier: CA368190362

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92140348A>C (hg19) ; chr7:g.92511034A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511034A>C , CM000669.2:g.92511034A>C	GRCh38
NC_000007.13:g.92140348A>C , CM000669.1:g.92140348A>C	GRCh37
NC_000007.12:g.91978284A>C	NCBI36
NG_008341.1:g.22498T>G
NG_008341.2:g.22498T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1497T>G MANE Select	ENSP00000248633.4:p.Phe499Leu
ENST00000248633.8:c.1497T>G	ENSP00000248633.4:p.Phe499Leu
ENST00000422866.1:c.398T>G
ENST00000428214.5:c.1497T>G	ENSP00000394413.1:p.Phe499Leu
ENST00000438045.5:c.531T>G	ENSP00000410438.1:p.Phe177Leu
ENST00000476923.1:n.258T>G
ENST00000484913.5:n.1536T>G
NM_000466.2:c.1497T>G	NP_000457.1:p.Phe499Leu
NM_001282677.1:c.1497T>G	NP_001269606.1:p.Phe499Leu
NM_001282678.1:c.873T>G	NP_001269607.1:p.Phe291Leu
XM_005250433.3:c.-170T>G	XP_005250490.1:n.-170T>G
XR_242246.3:n.1593T>G
XM_017012319.2:c.-170T>G	XP_016867808.1:n.-170T>G
XR_001744808.2:n.607T>G
XR_242246.5:n.1544T>G
NM_000466.3:c.1497T>G MANE Select	NP_000457.1:p.Phe499Leu
NM_001282677.2:c.1497T>G	NP_001269606.1:p.Phe499Leu
NM_001282678.2:c.873T>G	NP_001269607.1:p.Phe291Leu