Canonical Allele Identifier: CA2715159678

Gene: PEX1

Linked Data

• dbSNP Id: rs2116134943

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499992T>A , CM000669.2:g.92499992T>A	GRCh38
NC_000007.13:g.92129306T>A , CM000669.1:g.92129306T>A	GRCh37
NC_000007.12:g.91967242T>A	NCBI36
NG_008341.1:g.33540A>T
NG_008341.2:g.33540A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2584-154A>T MANE Select	ENSP00000248633.4:n.2584-154A>T
ENST00000248633.8:c.2584-154A>T	ENSP00000248633.4:n.2584-154A>T
ENST00000428214.5:c.2413-154A>T	ENSP00000394413.1:n.2413-154A>T
ENST00000438045.5:c.1618-154A>T	ENSP00000410438.1:n.1618-154A>T
ENST00000484913.5:n.2623-154A>T
ENST00000496420.5:n.2476-154A>T
NM_000466.2:c.2584-154A>T	NP_000457.1:n.2584-154A>T
NM_001282677.1:c.2413-154A>T	NP_001269606.1:n.2413-154A>T
NM_001282678.1:c.1960-154A>T	NP_001269607.1:n.1960-154A>T
XM_005250433.3:c.835-154A>T	XP_005250490.1:n.835-154A>T
XR_242246.3:n.2680-154A>T
XM_017012319.2:c.835-154A>T	XP_016867808.1:n.835-154A>T
XR_001744808.2:n.1611-154A>T
XR_242246.5:n.2631-154A>T
NM_000466.3:c.2584-154A>T MANE Select	NP_000457.1:n.2584-154A>T
NM_001282677.2:c.2413-154A>T	NP_001269606.1:n.2413-154A>T
NM_001282678.2:c.1960-154A>T	NP_001269607.1:n.1960-154A>T