Canonical Allele Identifier: CA456623895

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1574179
• ClinVar RCV Id: RCV002080501
• dbSNP Id: rs61750431
• MyVariant Identifiers: chr7:g.92120646G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491332G>A , CM000669.2:g.92491332G>A	GRCh38
NC_000007.13:g.92120646G>A , CM000669.1:g.92120646G>A	GRCh37
NC_000007.12:g.91958582G>A	NCBI36
NG_008341.1:g.42200C>T
NG_008341.2:g.42200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3378C>T (PEX1) MANE Select	ENSP00000248633.4:p.Tyr1126=
ENST00000248633.8:c.3378C>T (PEX1)	ENSP00000248633.4:p.Tyr1126=
ENST00000428214.5:c.3207C>T (PEX1)	ENSP00000394413.1:p.Tyr1069=
ENST00000438045.5:c.2412C>T (PEX1)	ENSP00000410438.1:p.Tyr804=
ENST00000484913.5:n.3417C>T (PEX1)
ENST00000496420.5:n.4433C>T (PEX1)
NM_000466.2:c.3378C>T (PEX1)	NP_000457.1:p.Tyr1126=
NM_001282677.1:c.3207C>T (PEX1)	NP_001269606.1:p.Tyr1069=
NM_001282678.1:c.2754C>T (PEX1)	NP_001269607.1:p.Tyr918=
XM_005250433.3:c.1629C>T (PEX1)	XP_005250490.1:p.Tyr543=
XR_242246.3:n.3474C>T (PEX1)
XM_017012319.2:c.1629C>T (PEX1)	XP_016867808.1:p.Tyr543=
XR_001744808.2:n.2405C>T (PEX1)
XR_001744842.2:n.2370G>A (GATAD1)
XR_001744843.2:n.2301G>A (GATAD1)
XR_002956472.1:n.2427G>A (GATAD1)
XR_002956473.1:n.2458G>A (GATAD1)
XR_002956474.1:n.2375G>A (GATAD1)
XR_242246.5:n.3425C>T (PEX1)
XR_927494.3:n.1152G>A (GATAD1)
XR_927500.3:n.1149G>A (GATAD1)
XR_927503.3:n.1083G>A (GATAD1)
NM_000466.3:c.3378C>T (PEX1) MANE Select	NP_000457.1:p.Tyr1126=
NM_001282677.2:c.3207C>T (PEX1)	NP_001269606.1:p.Tyr1069=
NM_001282678.2:c.2754C>T (PEX1)	NP_001269607.1:p.Tyr918=