Canonical Allele Identifier: CA368190028

Gene: PEX1

Linked Data

• dbSNP Id: rs1219374190
• gnomAD v2: 7-92140289-C-G
• gnomAD v4: 7-92510975-C-G
• COSMIC: COSM1452839
• MyVariant Identifiers: chr7:g.92140289C>G (hg19) ; chr7:g.92510975C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510975C>G , CM000669.2:g.92510975C>G	GRCh38
NC_000007.13:g.92140289C>G , CM000669.1:g.92140289C>G	GRCh37
NC_000007.12:g.91978225C>G	NCBI36
NG_008341.1:g.22557G>C
NG_008341.2:g.22557G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1556G>C MANE Select	ENSP00000248633.4:p.Ser519Thr
ENST00000248633.8:c.1556G>C	ENSP00000248633.4:p.Ser519Thr
ENST00000422866.1:c.457G>C
ENST00000428214.5:c.1556G>C	ENSP00000394413.1:p.Ser519Thr
ENST00000438045.5:c.590G>C	ENSP00000410438.1:p.Ser197Thr
ENST00000476923.1:n.317G>C
ENST00000484913.5:n.1595G>C
NM_000466.2:c.1556G>C	NP_000457.1:p.Ser519Thr
NM_001282677.1:c.1556G>C	NP_001269606.1:p.Ser519Thr
NM_001282678.1:c.932G>C	NP_001269607.1:p.Ser311Thr
XM_005250433.3:c.-111G>C	XP_005250490.1:n.-111G>C
XR_242246.3:n.1652G>C
XM_017012319.2:c.-111G>C	XP_016867808.1:n.-111G>C
XR_001744808.2:n.666G>C
XR_242246.5:n.1603G>C
NM_000466.3:c.1556G>C MANE Select	NP_000457.1:p.Ser519Thr
NM_001282677.2:c.1556G>C	NP_001269606.1:p.Ser519Thr
NM_001282678.2:c.932G>C	NP_001269607.1:p.Ser311Thr