Canonical Allele Identifier: CA843849818

Gene: PEX1

Linked Data

• dbSNP Id: rs1380192919
• gnomAD v3: 7-92506154-G-A
• gnomAD v4: 7-92506154-G-A
• MyVariant Identifiers: chr7:g.92135468G>A (hg19) ; chr7:g.92506154G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506154G>A , CM000669.2:g.92506154G>A	GRCh38
NC_000007.13:g.92135468G>A , CM000669.1:g.92135468G>A	GRCh37
NC_000007.12:g.91973404G>A	NCBI36
NG_008341.1:g.27378C>T
NG_008341.2:g.27378C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1900+94C>T MANE Select	ENSP00000248633.4:n.1900+94C>T
ENST00000248633.8:c.1900+94C>T	ENSP00000248633.4:n.1900+94C>T
ENST00000422866.1:c.718+94C>T
ENST00000428214.5:c.1900+94C>T	ENSP00000394413.1:n.1900+94C>T
ENST00000438045.5:c.934+94C>T	ENSP00000410438.1:n.934+94C>T
ENST00000484913.5:n.1939+94C>T
ENST00000496420.5:n.1576+94C>T
NM_000466.2:c.1900+94C>T	NP_000457.1:n.1900+94C>T
NM_001282677.1:c.1900+94C>T	NP_001269606.1:n.1900+94C>T
NM_001282678.1:c.1276+94C>T	NP_001269607.1:n.1276+94C>T
XM_005250433.3:c.151+94C>T	XP_005250490.1:n.151+94C>T
XR_242246.3:n.1996+94C>T
XM_017012319.2:c.151+94C>T	XP_016867808.1:n.151+94C>T
XR_001744808.2:n.927+94C>T
XR_242246.5:n.1947+94C>T
NM_000466.3:c.1900+94C>T MANE Select	NP_000457.1:n.1900+94C>T
NM_001282677.2:c.1900+94C>T	NP_001269606.1:n.1900+94C>T
NM_001282678.2:c.1276+94C>T	NP_001269607.1:n.1276+94C>T