Canonical Allele Identifier: CA4340876

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 1229478
• ClinVar RCV Id: RCV001609718
• dbSNP Id: rs41278791
• ExAC: 7:92120859 T / A
• gnomAD v2: 7-92120859-T-A
• gnomAD v3: 7-92491545-T-A
• gnomAD v4: 7-92491545-T-A
• MyVariant Identifiers: chr7:g.92120859T>A (hg19) ; chr7:g.92491545T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491545T>A , CM000669.2:g.92491545T>A	GRCh38
NC_000007.13:g.92120859T>A , CM000669.1:g.92120859T>A	GRCh37
NC_000007.12:g.91958795T>A	NCBI36
NG_008341.1:g.41987A>T
NG_008341.2:g.41987A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-43A>T (PEX1) MANE Select	ENSP00000248633.4:n.3208-43A>T
ENST00000248633.8:c.3208-43A>T (PEX1)	ENSP00000248633.4:n.3208-43A>T
ENST00000428214.5:c.3037-43A>T (PEX1)	ENSP00000394413.1:n.3037-43A>T
ENST00000438045.5:c.2242-43A>T (PEX1)	ENSP00000410438.1:n.2242-43A>T
ENST00000484913.5:n.3247-43A>T (PEX1)
ENST00000496420.5:n.4263-43A>T (PEX1)
NM_000466.2:c.3208-43A>T (PEX1)	NP_000457.1:n.3208-43A>T
NM_001282677.1:c.3037-43A>T (PEX1)	NP_001269606.1:n.3037-43A>T
NM_001282678.1:c.2584-43A>T (PEX1)	NP_001269607.1:n.2584-43A>T
XM_005250433.3:c.1459-43A>T (PEX1)	XP_005250490.1:n.1459-43A>T
XR_242246.3:n.3304-43A>T (PEX1)
XM_017012319.2:c.1459-43A>T (PEX1)	XP_016867808.1:n.1459-43A>T
XR_001744808.2:n.2235-43A>T (PEX1)
XR_001744842.2:n.2583T>A (GATAD1)
XR_001744843.2:n.2514T>A (GATAD1)
XR_002956472.1:n.2640T>A (GATAD1)
XR_002956473.1:n.2671T>A (GATAD1)
XR_002956474.1:n.2588T>A (GATAD1)
XR_242246.5:n.3255-43A>T (PEX1)
XR_927494.3:n.1365T>A (GATAD1)
XR_927500.3:n.1362T>A (GATAD1)
XR_927503.3:n.1296T>A (GATAD1)
NM_000466.3:c.3208-43A>T (PEX1) MANE Select	NP_000457.1:n.3208-43A>T
NM_001282677.2:c.3037-43A>T (PEX1)	NP_001269606.1:n.3037-43A>T
NM_001282678.2:c.2584-43A>T (PEX1)	NP_001269607.1:n.2584-43A>T