Canonical Allele Identifier: CA161953315

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs965088744
• gnomAD v3: 7-92491561-A-G
• gnomAD v4: 7-92491561-A-G
• MyVariant Identifiers: chr7:g.92120875A>G (hg19) ; chr7:g.92491561A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491561A>G , CM000669.2:g.92491561A>G	GRCh38
NC_000007.13:g.92120875A>G , CM000669.1:g.92120875A>G	GRCh37
NC_000007.12:g.91958811A>G	NCBI36
NG_008341.1:g.41971T>C
NG_008341.2:g.41971T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-59T>C (PEX1) MANE Select	ENSP00000248633.4:n.3208-59T>C
ENST00000248633.8:c.3208-59T>C (PEX1)	ENSP00000248633.4:n.3208-59T>C
ENST00000428214.5:c.3037-59T>C (PEX1)	ENSP00000394413.1:n.3037-59T>C
ENST00000438045.5:c.2242-59T>C (PEX1)	ENSP00000410438.1:n.2242-59T>C
ENST00000484913.5:n.3247-59T>C (PEX1)
ENST00000496420.5:n.4263-59T>C (PEX1)
NM_000466.2:c.3208-59T>C (PEX1)	NP_000457.1:n.3208-59T>C
NM_001282677.1:c.3037-59T>C (PEX1)	NP_001269606.1:n.3037-59T>C
NM_001282678.1:c.2584-59T>C (PEX1)	NP_001269607.1:n.2584-59T>C
XM_005250433.3:c.1459-59T>C (PEX1)	XP_005250490.1:n.1459-59T>C
XR_242246.3:n.3304-59T>C (PEX1)
XM_017012319.2:c.1459-59T>C (PEX1)	XP_016867808.1:n.1459-59T>C
XR_001744808.2:n.2235-59T>C (PEX1)
XR_001744842.2:n.2599A>G (GATAD1)
XR_001744843.2:n.2530A>G (GATAD1)
XR_002956472.1:n.2656A>G (GATAD1)
XR_002956473.1:n.2687A>G (GATAD1)
XR_002956474.1:n.2604A>G (GATAD1)
XR_242246.5:n.3255-59T>C (PEX1)
XR_927494.3:n.1381A>G (GATAD1)
XR_927500.3:n.1378A>G (GATAD1)
XR_927503.3:n.1312A>G (GATAD1)
NM_000466.3:c.3208-59T>C (PEX1) MANE Select	NP_000457.1:n.3208-59T>C
NM_001282677.2:c.3037-59T>C (PEX1)	NP_001269606.1:n.3037-59T>C
NM_001282678.2:c.2584-59T>C (PEX1)	NP_001269607.1:n.2584-59T>C