Canonical Allele Identifier: CA456480887

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1226204256
• gnomAD v3: 7-92491513-C-T
• gnomAD v4: 7-92491513-C-T
• MyVariant Identifiers: chr7:g.92120827C>T (hg19) ; chr7:g.92491513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491513C>T , CM000669.2:g.92491513C>T	GRCh38
NC_000007.13:g.92120827C>T , CM000669.1:g.92120827C>T	GRCh37
NC_000007.12:g.91958763C>T	NCBI36
NG_008341.1:g.42019G>A
NG_008341.2:g.42019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-11G>A (PEX1) MANE Select	ENSP00000248633.4:n.3208-11G>A
ENST00000248633.8:c.3208-11G>A (PEX1)	ENSP00000248633.4:n.3208-11G>A
ENST00000428214.5:c.3037-11G>A (PEX1)	ENSP00000394413.1:n.3037-11G>A
ENST00000438045.5:c.2242-11G>A (PEX1)	ENSP00000410438.1:n.2242-11G>A
ENST00000484913.5:n.3247-11G>A (PEX1)
ENST00000496420.5:n.4263-11G>A (PEX1)
NM_000466.2:c.3208-11G>A (PEX1)	NP_000457.1:n.3208-11G>A
NM_001282677.1:c.3037-11G>A (PEX1)	NP_001269606.1:n.3037-11G>A
NM_001282678.1:c.2584-11G>A (PEX1)	NP_001269607.1:n.2584-11G>A
XM_005250433.3:c.1459-11G>A (PEX1)	XP_005250490.1:n.1459-11G>A
XR_242246.3:n.3304-11G>A (PEX1)
XM_017012319.2:c.1459-11G>A (PEX1)	XP_016867808.1:n.1459-11G>A
XR_001744808.2:n.2235-11G>A (PEX1)
XR_001744842.2:n.2551C>T (GATAD1)
XR_001744843.2:n.2482C>T (GATAD1)
XR_002956472.1:n.2608C>T (GATAD1)
XR_002956473.1:n.2639C>T (GATAD1)
XR_002956474.1:n.2556C>T (GATAD1)
XR_242246.5:n.3255-11G>A (PEX1)
XR_927494.3:n.1333C>T (GATAD1)
XR_927500.3:n.1330C>T (GATAD1)
XR_927503.3:n.1264C>T (GATAD1)
NM_000466.3:c.3208-11G>A (PEX1) MANE Select	NP_000457.1:n.3208-11G>A
NM_001282677.2:c.3037-11G>A (PEX1)	NP_001269606.1:n.3037-11G>A
NM_001282678.2:c.2584-11G>A (PEX1)	NP_001269607.1:n.2584-11G>A