Canonical Allele Identifier: CA368163688

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120654T>A (hg19) ; chr7:g.92491340T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491340T>A , CM000669.2:g.92491340T>A	GRCh38
NC_000007.13:g.92120654T>A , CM000669.1:g.92120654T>A	GRCh37
NC_000007.12:g.91958590T>A	NCBI36
NG_008341.1:g.42192A>T
NG_008341.2:g.42192A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3370A>T (PEX1) MANE Select	ENSP00000248633.4:p.Asn1124Tyr
ENST00000248633.8:c.3370A>T (PEX1)	ENSP00000248633.4:p.Asn1124Tyr
ENST00000428214.5:c.3199A>T (PEX1)	ENSP00000394413.1:p.Asn1067Tyr
ENST00000438045.5:c.2404A>T (PEX1)	ENSP00000410438.1:p.Asn802Tyr
ENST00000484913.5:n.3409A>T (PEX1)
ENST00000496420.5:n.4425A>T (PEX1)
NM_000466.2:c.3370A>T (PEX1)	NP_000457.1:p.Asn1124Tyr
NM_001282677.1:c.3199A>T (PEX1)	NP_001269606.1:p.Asn1067Tyr
NM_001282678.1:c.2746A>T (PEX1)	NP_001269607.1:p.Asn916Tyr
XM_005250433.3:c.1621A>T (PEX1)	XP_005250490.1:p.Asn541Tyr
XR_242246.3:n.3466A>T (PEX1)
XM_017012319.2:c.1621A>T (PEX1)	XP_016867808.1:p.Asn541Tyr
XR_001744808.2:n.2397A>T (PEX1)
XR_001744842.2:n.2378T>A (GATAD1)
XR_001744843.2:n.2309T>A (GATAD1)
XR_002956472.1:n.2435T>A (GATAD1)
XR_002956473.1:n.2466T>A (GATAD1)
XR_002956474.1:n.2383T>A (GATAD1)
XR_242246.5:n.3417A>T (PEX1)
XR_927494.3:n.1160T>A (GATAD1)
XR_927500.3:n.1157T>A (GATAD1)
XR_927503.3:n.1091T>A (GATAD1)
NM_000466.3:c.3370A>T (PEX1) MANE Select	NP_000457.1:p.Asn1124Tyr
NM_001282677.2:c.3199A>T (PEX1)	NP_001269606.1:p.Asn1067Tyr
NM_001282678.2:c.2746A>T (PEX1)	NP_001269607.1:p.Asn916Tyr