Canonical Allele Identifier: CA368167458

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494338C>G , CM000669.2:g.92494338C>G GRCh38
NC_000007.13:g.92123652C>G , CM000669.1:g.92123652C>G GRCh37
NC_000007.12:g.91961588C>G NCBI36
NG_008341.1:g.39194G>C
NG_008341.2:g.39194G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2985G>C (PEX1) MANE Select ENSP00000248633.4:p.Arg995Ser
ENST00000248633.8:c.2985G>C (PEX1) ENSP00000248633.4:p.Arg995Ser
ENST00000428214.5:c.2814G>C (PEX1) ENSP00000394413.1:p.Arg938Ser
ENST00000438045.5:c.2019G>C (PEX1) ENSP00000410438.1:p.Arg673Ser
ENST00000484913.5:n.3024G>C (PEX1)
ENST00000496420.5:n.2877G>C (PEX1)
NM_000466.2:c.2985G>C (PEX1) NP_000457.1:p.Arg995Ser
NM_001282677.1:c.2814G>C (PEX1) NP_001269606.1:p.Arg938Ser
NM_001282678.1:c.2361G>C (PEX1) NP_001269607.1:p.Arg787Ser
XM_005250433.3:c.1236G>C (PEX1) XP_005250490.1:p.Arg412Ser
XR_242246.3:n.3081G>C (PEX1)
XM_017012319.2:c.1236G>C (PEX1) XP_016867808.1:p.Arg412Ser
XR_001744808.2:n.2012G>C (PEX1)
XR_001744843.2:n.5307C>G (GATAD1)
XR_242246.5:n.3032G>C (PEX1)
XR_927494.3:n.4158C>G (GATAD1)
XR_927503.3:n.4089C>G (GATAD1)
NM_000466.3:c.2985G>C (PEX1) MANE Select NP_000457.1:p.Arg995Ser
NM_001282677.2:c.2814G>C (PEX1) NP_001269606.1:p.Arg938Ser
NM_001282678.2:c.2361G>C (PEX1) NP_001269607.1:p.Arg787Ser