Canonical Allele Identifier: CA368181994

Gene: PEX1

Linked Data

• gnomAD v4: 7-92503159-C-A
• MyVariant Identifiers: chr7:g.92132473C>A (hg19) ; chr7:g.92503159C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503159C>A , CM000669.2:g.92503159C>A	GRCh38
NC_000007.13:g.92132473C>A , CM000669.1:g.92132473C>A	GRCh37
NC_000007.12:g.91970409C>A	NCBI36
NG_008341.1:g.30373G>T
NG_008341.2:g.30373G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2108G>T MANE Select	ENSP00000248633.4:p.Gly703Val
ENST00000248633.8:c.2108G>T	ENSP00000248633.4:p.Gly703Val
ENST00000428214.5:c.1937G>T	ENSP00000394413.1:p.Gly646Val
ENST00000438045.5:c.1142G>T	ENSP00000410438.1:p.Gly381Val
ENST00000484913.5:n.2147G>T
ENST00000496420.5:n.1784G>T
NM_000466.2:c.2108G>T	NP_000457.1:p.Gly703Val
NM_001282677.1:c.1937G>T	NP_001269606.1:p.Gly646Val
NM_001282678.1:c.1484G>T	NP_001269607.1:p.Gly495Val
XM_005250433.3:c.359G>T	XP_005250490.1:p.Gly120Val
XR_242246.3:n.2204G>T
XM_017012319.2:c.359G>T	XP_016867808.1:p.Gly120Val
XR_001744808.2:n.1135G>T
XR_242246.5:n.2155G>T
NM_000466.3:c.2108G>T MANE Select	NP_000457.1:p.Gly703Val
NM_001282677.2:c.1937G>T	NP_001269606.1:p.Gly646Val
NM_001282678.2:c.1484G>T	NP_001269607.1:p.Gly495Val