Canonical Allele Identifier: CA368181437
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92503084A>C , CM000669.2:g.92503084A>C GRCh38
NC_000007.13:g.92132398A>C , CM000669.1:g.92132398A>C GRCh37
NC_000007.12:g.91970334A>C NCBI36
NG_008341.1:g.30448T>G
NG_008341.2:g.30448T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2183T>G MANE Select ENSP00000248633.4:p.Val728Gly
ENST00000248633.8:c.2183T>G ENSP00000248633.4:p.Val728Gly
ENST00000428214.5:c.2012T>G ENSP00000394413.1:p.Val671Gly
ENST00000438045.5:c.1217T>G ENSP00000410438.1:p.Val406Gly
ENST00000484913.5:n.2222T>G
ENST00000496420.5:n.1859T>G
NM_000466.2:c.2183T>G NP_000457.1:p.Val728Gly
NM_001282677.1:c.2012T>G NP_001269606.1:p.Val671Gly
NM_001282678.1:c.1559T>G NP_001269607.1:p.Val520Gly
XM_005250433.3:c.434T>G XP_005250490.1:p.Val145Gly
XR_242246.3:n.2279T>G
XM_017012319.2:c.434T>G XP_016867808.1:p.Val145Gly
XR_001744808.2:n.1210T>G
XR_242246.5:n.2230T>G
NM_000466.3:c.2183T>G MANE Select NP_000457.1:p.Val728Gly
NM_001282677.2:c.2012T>G NP_001269606.1:p.Val671Gly
NM_001282678.2:c.1559T>G NP_001269607.1:p.Val520Gly