Canonical Allele Identifier: CA161953227

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs765535978
• gnomAD v4: 7-92491471-C-A
• MyVariant Identifiers: chr7:g.92120785C>A (hg19) ; chr7:g.92491471C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491471C>A , CM000669.2:g.92491471C>A	GRCh38
NC_000007.13:g.92120785C>A , CM000669.1:g.92120785C>A	GRCh37
NC_000007.12:g.91958721C>A	NCBI36
NG_008341.1:g.42061G>T
NG_008341.2:g.42061G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3239G>T (PEX1) MANE Select	ENSP00000248633.4:p.Ser1080Ile
ENST00000248633.8:c.3239G>T (PEX1)	ENSP00000248633.4:p.Ser1080Ile
ENST00000428214.5:c.3068G>T (PEX1)	ENSP00000394413.1:p.Ser1023Ile
ENST00000438045.5:c.2273G>T (PEX1)	ENSP00000410438.1:p.Ser758Ile
ENST00000484913.5:n.3278G>T (PEX1)
ENST00000496420.5:n.4294G>T (PEX1)
NM_000466.2:c.3239G>T (PEX1)	NP_000457.1:p.Ser1080Ile
NM_001282677.1:c.3068G>T (PEX1)	NP_001269606.1:p.Ser1023Ile
NM_001282678.1:c.2615G>T (PEX1)	NP_001269607.1:p.Ser872Ile
XM_005250433.3:c.1490G>T (PEX1)	XP_005250490.1:p.Ser497Ile
XR_242246.3:n.3335G>T (PEX1)
XM_017012319.2:c.1490G>T (PEX1)	XP_016867808.1:p.Ser497Ile
XR_001744808.2:n.2266G>T (PEX1)
XR_001744842.2:n.2509C>A (GATAD1)
XR_001744843.2:n.2440C>A (GATAD1)
XR_002956472.1:n.2566C>A (GATAD1)
XR_002956473.1:n.2597C>A (GATAD1)
XR_002956474.1:n.2514C>A (GATAD1)
XR_242246.5:n.3286G>T (PEX1)
XR_927494.3:n.1291C>A (GATAD1)
XR_927500.3:n.1288C>A (GATAD1)
XR_927503.3:n.1222C>A (GATAD1)
NM_000466.3:c.3239G>T (PEX1) MANE Select	NP_000457.1:p.Ser1080Ile
NM_001282677.2:c.3068G>T (PEX1)	NP_001269606.1:p.Ser1023Ile
NM_001282678.2:c.2615G>T (PEX1)	NP_001269607.1:p.Ser872Ile