Canonical Allele Identifier: CA161955727

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs943272419
• gnomAD v2: 7-92123854-T-A
• gnomAD v4: 7-92494540-T-A
• MyVariant Identifiers: chr7:g.92123854T>A (hg19) ; chr7:g.92494540T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494540T>A , CM000669.2:g.92494540T>A	GRCh38
NC_000007.13:g.92123854T>A , CM000669.1:g.92123854T>A	GRCh37
NC_000007.12:g.91961790T>A	NCBI36
NG_008341.1:g.38992A>T
NG_008341.2:g.38992A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2873A>T (PEX1) MANE Select	ENSP00000248633.4:p.Asp958Val
ENST00000248633.8:c.2873A>T (PEX1)	ENSP00000248633.4:p.Asp958Val
ENST00000428214.5:c.2702A>T (PEX1)	ENSP00000394413.1:p.Asp901Val
ENST00000438045.5:c.1907A>T (PEX1)	ENSP00000410438.1:p.Asp636Val
ENST00000484913.5:n.2912A>T (PEX1)
ENST00000496420.5:n.2765A>T (PEX1)
NM_000466.2:c.2873A>T (PEX1)	NP_000457.1:p.Asp958Val
NM_001282677.1:c.2702A>T (PEX1)	NP_001269606.1:p.Asp901Val
NM_001282678.1:c.2249A>T (PEX1)	NP_001269607.1:p.Asp750Val
XM_005250433.3:c.1124A>T (PEX1)	XP_005250490.1:p.Asp375Val
XR_242246.3:n.2969A>T (PEX1)
XM_017012319.2:c.1124A>T (PEX1)	XP_016867808.1:p.Asp375Val
XR_001744808.2:n.1900A>T (PEX1)
XR_001744843.2:n.5509T>A (GATAD1)
XR_242246.5:n.2920A>T (PEX1)
XR_927494.3:n.4360T>A (GATAD1)
XR_927503.3:n.4291T>A (GATAD1)
NM_000466.3:c.2873A>T (PEX1) MANE Select	NP_000457.1:p.Asp958Val
NM_001282677.2:c.2702A>T (PEX1)	NP_001269606.1:p.Asp901Val
NM_001282678.2:c.2249A>T (PEX1)	NP_001269607.1:p.Asp750Val