Canonical Allele Identifier: CA368164016

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791306953
• MyVariant Identifiers: chr7:g.92120704G>T (hg19) ; chr7:g.92491390G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491390G>T , CM000669.2:g.92491390G>T	GRCh38
NC_000007.13:g.92120704G>T , CM000669.1:g.92120704G>T	GRCh37
NC_000007.12:g.91958640G>T	NCBI36
NG_008341.1:g.42142C>A
NG_008341.2:g.42142C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3320C>A (PEX1) MANE Select	ENSP00000248633.4:p.Ser1107Tyr
ENST00000248633.8:c.3320C>A (PEX1)	ENSP00000248633.4:p.Ser1107Tyr
ENST00000428214.5:c.3149C>A (PEX1)	ENSP00000394413.1:p.Ser1050Tyr
ENST00000438045.5:c.2354C>A (PEX1)	ENSP00000410438.1:p.Ser785Tyr
ENST00000484913.5:n.3359C>A (PEX1)
ENST00000496420.5:n.4375C>A (PEX1)
NM_000466.2:c.3320C>A (PEX1)	NP_000457.1:p.Ser1107Tyr
NM_001282677.1:c.3149C>A (PEX1)	NP_001269606.1:p.Ser1050Tyr
NM_001282678.1:c.2696C>A (PEX1)	NP_001269607.1:p.Ser899Tyr
XM_005250433.3:c.1571C>A (PEX1)	XP_005250490.1:p.Ser524Tyr
XR_242246.3:n.3416C>A (PEX1)
XM_017012319.2:c.1571C>A (PEX1)	XP_016867808.1:p.Ser524Tyr
XR_001744808.2:n.2347C>A (PEX1)
XR_001744842.2:n.2428G>T (GATAD1)
XR_001744843.2:n.2359G>T (GATAD1)
XR_002956472.1:n.2485G>T (GATAD1)
XR_002956473.1:n.2516G>T (GATAD1)
XR_002956474.1:n.2433G>T (GATAD1)
XR_242246.5:n.3367C>A (PEX1)
XR_927494.3:n.1210G>T (GATAD1)
XR_927500.3:n.1207G>T (GATAD1)
XR_927503.3:n.1141G>T (GATAD1)
NM_000466.3:c.3320C>A (PEX1) MANE Select	NP_000457.1:p.Ser1107Tyr
NM_001282677.2:c.3149C>A (PEX1)	NP_001269606.1:p.Ser1050Tyr
NM_001282678.2:c.2696C>A (PEX1)	NP_001269607.1:p.Ser899Tyr