Canonical Allele Identifier: CA456483390
Gene: PEX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.92134170T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504856T>C , CM000669.2:g.92504856T>C GRCh38
NC_000007.13:g.92134170T>C , CM000669.1:g.92134170T>C GRCh37
NC_000007.12:g.91972106T>C NCBI36
NG_008341.1:g.28676A>G
NG_008341.2:g.28676A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.1947A>G MANE Select ENSP00000248633.4:p.Ser649=
ENST00000248633.8:c.1947A>G ENSP00000248633.4:p.Ser649=
ENST00000428214.5:c.1900+1392A>G ENSP00000394413.1:n.1900+1392A>G
ENST00000438045.5:c.981A>G ENSP00000410438.1:p.Ser327=
ENST00000484913.5:n.1986A>G
ENST00000496420.5:n.1623A>G
NM_000466.2:c.1947A>G NP_000457.1:p.Ser649=
NM_001282677.1:c.1900+1392A>G NP_001269606.1:n.1900+1392A>G
NM_001282678.1:c.1323A>G NP_001269607.1:p.Ser441=
XM_005250433.3:c.198A>G XP_005250490.1:p.Ser66=
XR_242246.3:n.2043A>G
XM_017012319.2:c.198A>G XP_016867808.1:p.Ser66=
XR_001744808.2:n.974A>G
XR_242246.5:n.1994A>G
NM_000466.3:c.1947A>G MANE Select NP_000457.1:p.Ser649=
NM_001282677.2:c.1900+1392A>G NP_001269606.1:n.1900+1392A>G
NM_001282678.2:c.1323A>G NP_001269607.1:p.Ser441=