Canonical Allele Identifier: CA368170908

Gene: PEX1

Linked Data

• dbSNP Id: rs1192838907
• gnomAD v2: 7-92126040-C-A
• gnomAD v3: 7-92496726-C-A
• gnomAD v4: 7-92496726-C-A
• MyVariant Identifiers: chr7:g.92126040C>A (hg19) ; chr7:g.92496726C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496726C>A , CM000669.2:g.92496726C>A	GRCh38
NC_000007.13:g.92126040C>A , CM000669.1:g.92126040C>A	GRCh37
NC_000007.12:g.91963976C>A	NCBI36
NG_008341.1:g.36806G>T
NG_008341.2:g.36806G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2770G>T MANE Select	ENSP00000248633.4:p.Asp924Tyr
ENST00000248633.8:c.2770G>T	ENSP00000248633.4:p.Asp924Tyr
ENST00000428214.5:c.2599G>T	ENSP00000394413.1:p.Asp867Tyr
ENST00000438045.5:c.1804G>T	ENSP00000410438.1:p.Asp602Tyr
ENST00000484913.5:n.2809G>T
ENST00000496420.5:n.2662G>T
NM_000466.2:c.2770G>T	NP_000457.1:p.Asp924Tyr
NM_001282677.1:c.2599G>T	NP_001269606.1:p.Asp867Tyr
NM_001282678.1:c.2146G>T	NP_001269607.1:p.Asp716Tyr
XM_005250433.3:c.1021G>T	XP_005250490.1:p.Asp341Tyr
XR_242246.3:n.2866G>T
XM_017012319.2:c.1021G>T	XP_016867808.1:p.Asp341Tyr
XR_001744808.2:n.1797G>T
XR_242246.5:n.2817G>T
NM_000466.3:c.2770G>T MANE Select	NP_000457.1:p.Asp924Tyr
NM_001282677.2:c.2599G>T	NP_001269606.1:p.Asp867Tyr
NM_001282678.2:c.2146G>T	NP_001269607.1:p.Asp716Tyr