Canonical Allele Identifier: CA161953224

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs765535978
• gnomAD v2: 7-92120785-C-G
• gnomAD v4: 7-92491471-C-G
• MyVariant Identifiers: chr7:g.92120785C>G (hg19) ; chr7:g.92491471C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3239G>C (PEX1) MANE Select	ENSP00000248633.4:p.Ser1080Thr
ENST00000248633.8:c.3239G>C (PEX1)	ENSP00000248633.4:p.Ser1080Thr
ENST00000428214.5:c.3068G>C (PEX1)	ENSP00000394413.1:p.Ser1023Thr
ENST00000438045.5:c.2273G>C (PEX1)	ENSP00000410438.1:p.Ser758Thr
ENST00000484913.5:n.3278G>C (PEX1)
ENST00000496420.5:n.4294G>C (PEX1)
NM_000466.2:c.3239G>C (PEX1)	NP_000457.1:p.Ser1080Thr
NM_001282677.1:c.3068G>C (PEX1)	NP_001269606.1:p.Ser1023Thr
NM_001282678.1:c.2615G>C (PEX1)	NP_001269607.1:p.Ser872Thr
XM_005250433.3:c.1490G>C (PEX1)	XP_005250490.1:p.Ser497Thr
XR_242246.3:n.3335G>C (PEX1)
XM_017012319.2:c.1490G>C (PEX1)	XP_016867808.1:p.Ser497Thr
XR_001744808.2:n.2266G>C (PEX1)
XR_001744842.2:n.2509C>G (GATAD1)
XR_001744843.2:n.2440C>G (GATAD1)
XR_002956472.1:n.2566C>G (GATAD1)
XR_002956473.1:n.2597C>G (GATAD1)
XR_002956474.1:n.2514C>G (GATAD1)
XR_242246.5:n.3286G>C (PEX1)
XR_927494.3:n.1291C>G (GATAD1)
XR_927500.3:n.1288C>G (GATAD1)
XR_927503.3:n.1222C>G (GATAD1)
NM_000466.3:c.3239G>C (PEX1) MANE Select	NP_000457.1:p.Ser1080Thr
NM_001282677.2:c.3068G>C (PEX1)	NP_001269606.1:p.Ser1023Thr
NM_001282678.2:c.2615G>C (PEX1)	NP_001269607.1:p.Ser872Thr