Canonical Allele Identifier: CA2499219050

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1070990
• ClinVar RCV Id: RCV001383329
• dbSNP Id: rs2116110975

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496756_92496759dup , CM000669.2:g.92496756_92496759dup	GRCh38
NC_000007.13:g.92126070_92126073dup , CM000669.1:g.92126070_92126073dup	GRCh37
NC_000007.12:g.91964006_91964009dup	NCBI36
NG_008341.1:g.36774_36777dup
NG_008341.2:g.36774_36777dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2738_2741dup MANE Select	ENSP00000248633.4:p.Tyr914Ter
ENST00000248633.8:c.2738_2741dup	ENSP00000248633.4:p.Tyr914Ter
ENST00000428214.5:c.2567_2570dup	ENSP00000394413.1:p.Tyr857Ter
ENST00000438045.5:c.1772_1775dup	ENSP00000410438.1:p.Tyr592Ter
ENST00000484913.5:n.2777_2780dup
ENST00000496420.5:n.2630_2633dup
NM_000466.2:c.2738_2741dup	NP_000457.1:p.Tyr914Ter
NM_001282677.1:c.2567_2570dup	NP_001269606.1:p.Tyr857Ter
NM_001282678.1:c.2114_2117dup	NP_001269607.1:p.Tyr706Ter
XM_005250433.3:c.989_992dup	XP_005250490.1:p.Tyr331Ter
XR_242246.3:n.2834_2837dup
XM_017012319.2:c.989_992dup	XP_016867808.1:p.Tyr331Ter
XR_001744808.2:n.1765_1768dup
XR_242246.5:n.2785_2788dup
NM_000466.3:c.2738_2741dup MANE Select	NP_000457.1:p.Tyr914Ter
NM_001282677.2:c.2567_2570dup	NP_001269606.1:p.Tyr857Ter
NM_001282678.2:c.2114_2117dup	NP_001269607.1:p.Tyr706Ter