Canonical Allele Identifier: CA368164982

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120813C>A (hg19) ; chr7:g.92491499C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491499C>A , CM000669.2:g.92491499C>A	GRCh38
NC_000007.13:g.92120813C>A , CM000669.1:g.92120813C>A	GRCh37
NC_000007.12:g.91958749C>A	NCBI36
NG_008341.1:g.42033G>T
NG_008341.2:g.42033G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3211G>T (PEX1) MANE Select	ENSP00000248633.4:p.Gly1071Ter
ENST00000248633.8:c.3211G>T (PEX1)	ENSP00000248633.4:p.Gly1071Ter
ENST00000428214.5:c.3040G>T (PEX1)	ENSP00000394413.1:p.Gly1014Ter
ENST00000438045.5:c.2245G>T (PEX1)	ENSP00000410438.1:p.Gly749Ter
ENST00000484913.5:n.3250G>T (PEX1)
ENST00000496420.5:n.4266G>T (PEX1)
NM_000466.2:c.3211G>T (PEX1)	NP_000457.1:p.Gly1071Ter
NM_001282677.1:c.3040G>T (PEX1)	NP_001269606.1:p.Gly1014Ter
NM_001282678.1:c.2587G>T (PEX1)	NP_001269607.1:p.Gly863Ter
XM_005250433.3:c.1462G>T (PEX1)	XP_005250490.1:p.Gly488Ter
XR_242246.3:n.3307G>T (PEX1)
XM_017012319.2:c.1462G>T (PEX1)	XP_016867808.1:p.Gly488Ter
XR_001744808.2:n.2238G>T (PEX1)
XR_001744842.2:n.2537C>A (GATAD1)
XR_001744843.2:n.2468C>A (GATAD1)
XR_002956472.1:n.2594C>A (GATAD1)
XR_002956473.1:n.2625C>A (GATAD1)
XR_002956474.1:n.2542C>A (GATAD1)
XR_242246.5:n.3258G>T (PEX1)
XR_927494.3:n.1319C>A (GATAD1)
XR_927500.3:n.1316C>A (GATAD1)
XR_927503.3:n.1250C>A (GATAD1)
NM_000466.3:c.3211G>T (PEX1) MANE Select	NP_000457.1:p.Gly1071Ter
NM_001282677.2:c.3040G>T (PEX1)	NP_001269606.1:p.Gly1014Ter
NM_001282678.2:c.2587G>T (PEX1)	NP_001269607.1:p.Gly863Ter