Canonical Allele Identifier: CA368170942

Gene: PEX1

Linked Data

• dbSNP Id: rs1226811455
• gnomAD v2: 7-92126046-C-G
• gnomAD v4: 7-92496732-C-G
• MyVariant Identifiers: chr7:g.92126046C>G (hg19) ; chr7:g.92496732C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496732C>G , CM000669.2:g.92496732C>G	GRCh38
NC_000007.13:g.92126046C>G , CM000669.1:g.92126046C>G	GRCh37
NC_000007.12:g.91963982C>G	NCBI36
NG_008341.1:g.36800G>C
NG_008341.2:g.36800G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2764G>C MANE Select	ENSP00000248633.4:p.Val922Leu
ENST00000248633.8:c.2764G>C	ENSP00000248633.4:p.Val922Leu
ENST00000428214.5:c.2593G>C	ENSP00000394413.1:p.Val865Leu
ENST00000438045.5:c.1798G>C	ENSP00000410438.1:p.Val600Leu
ENST00000484913.5:n.2803G>C
ENST00000496420.5:n.2656G>C
NM_000466.2:c.2764G>C	NP_000457.1:p.Val922Leu
NM_001282677.1:c.2593G>C	NP_001269606.1:p.Val865Leu
NM_001282678.1:c.2140G>C	NP_001269607.1:p.Val714Leu
XM_005250433.3:c.1015G>C	XP_005250490.1:p.Val339Leu
XR_242246.3:n.2860G>C
XM_017012319.2:c.1015G>C	XP_016867808.1:p.Val339Leu
XR_001744808.2:n.1791G>C
XR_242246.5:n.2811G>C
NM_000466.3:c.2764G>C MANE Select	NP_000457.1:p.Val922Leu
NM_001282677.2:c.2593G>C	NP_001269606.1:p.Val865Leu
NM_001282678.2:c.2140G>C	NP_001269607.1:p.Val714Leu