Canonical Allele Identifier: CA368190291

Gene: PEX1

Linked Data

• gnomAD v4: 7-92511020-A-G
• MyVariant Identifiers: chr7:g.92140334A>G (hg19) ; chr7:g.92511020A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511020A>G , CM000669.2:g.92511020A>G	GRCh38
NC_000007.13:g.92140334A>G , CM000669.1:g.92140334A>G	GRCh37
NC_000007.12:g.91978270A>G	NCBI36
NG_008341.1:g.22512T>C
NG_008341.2:g.22512T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1511T>C MANE Select	ENSP00000248633.4:p.Val504Ala
ENST00000248633.8:c.1511T>C	ENSP00000248633.4:p.Val504Ala
ENST00000422866.1:c.412T>C
ENST00000428214.5:c.1511T>C	ENSP00000394413.1:p.Val504Ala
ENST00000438045.5:c.545T>C	ENSP00000410438.1:p.Val182Ala
ENST00000476923.1:n.272T>C
ENST00000484913.5:n.1550T>C
NM_000466.2:c.1511T>C	NP_000457.1:p.Val504Ala
NM_001282677.1:c.1511T>C	NP_001269606.1:p.Val504Ala
NM_001282678.1:c.887T>C	NP_001269607.1:p.Val296Ala
XM_005250433.3:c.-156T>C	XP_005250490.1:n.-156T>C
XR_242246.3:n.1607T>C
XM_017012319.2:c.-156T>C	XP_016867808.1:n.-156T>C
XR_001744808.2:n.621T>C
XR_242246.5:n.1558T>C
NM_000466.3:c.1511T>C MANE Select	NP_000457.1:p.Val504Ala
NM_001282677.2:c.1511T>C	NP_001269606.1:p.Val504Ala
NM_001282678.2:c.887T>C	NP_001269607.1:p.Val296Ala