Canonical Allele Identifier: CA368164252

Gene: PEX1 GATAD1

Linked Data

• MyVariant Identifiers: chr7:g.92120735C>G (hg19) ; chr7:g.92491421C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491421C>G , CM000669.2:g.92491421C>G	GRCh38
NC_000007.13:g.92120735C>G , CM000669.1:g.92120735C>G	GRCh37
NC_000007.12:g.91958671C>G	NCBI36
NG_008341.1:g.42111G>C
NG_008341.2:g.42111G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3289G>C (PEX1) MANE Select	ENSP00000248633.4:p.Ala1097Pro
ENST00000248633.8:c.3289G>C (PEX1)	ENSP00000248633.4:p.Ala1097Pro
ENST00000428214.5:c.3118G>C (PEX1)	ENSP00000394413.1:p.Ala1040Pro
ENST00000438045.5:c.2323G>C (PEX1)	ENSP00000410438.1:p.Ala775Pro
ENST00000484913.5:n.3328G>C (PEX1)
ENST00000496420.5:n.4344G>C (PEX1)
NM_000466.2:c.3289G>C (PEX1)	NP_000457.1:p.Ala1097Pro
NM_001282677.1:c.3118G>C (PEX1)	NP_001269606.1:p.Ala1040Pro
NM_001282678.1:c.2665G>C (PEX1)	NP_001269607.1:p.Ala889Pro
XM_005250433.3:c.1540G>C (PEX1)	XP_005250490.1:p.Ala514Pro
XR_242246.3:n.3385G>C (PEX1)
XM_017012319.2:c.1540G>C (PEX1)	XP_016867808.1:p.Ala514Pro
XR_001744808.2:n.2316G>C (PEX1)
XR_001744842.2:n.2459C>G (GATAD1)
XR_001744843.2:n.2390C>G (GATAD1)
XR_002956472.1:n.2516C>G (GATAD1)
XR_002956473.1:n.2547C>G (GATAD1)
XR_002956474.1:n.2464C>G (GATAD1)
XR_242246.5:n.3336G>C (PEX1)
XR_927494.3:n.1241C>G (GATAD1)
XR_927500.3:n.1238C>G (GATAD1)
XR_927503.3:n.1172C>G (GATAD1)
NM_000466.3:c.3289G>C (PEX1) MANE Select	NP_000457.1:p.Ala1097Pro
NM_001282677.2:c.3118G>C (PEX1)	NP_001269606.1:p.Ala1040Pro
NM_001282678.2:c.2665G>C (PEX1)	NP_001269607.1:p.Ala889Pro