Canonical Allele Identifier: CA368181432

Gene: PEX1

Linked Data

• dbSNP Id: rs950106288
• gnomAD v4: 7-92503082-G-A
• COSMIC: COSM4477796
• MyVariant Identifiers: chr7:g.92132396G>A (hg19) ; chr7:g.92503082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503082G>A , CM000669.2:g.92503082G>A	GRCh38
NC_000007.13:g.92132396G>A , CM000669.1:g.92132396G>A	GRCh37
NC_000007.12:g.91970332G>A	NCBI36
NG_008341.1:g.30450C>T
NG_008341.2:g.30450C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2185C>T MANE Select	ENSP00000248633.4:p.His729Tyr
ENST00000248633.8:c.2185C>T	ENSP00000248633.4:p.His729Tyr
ENST00000428214.5:c.2014C>T	ENSP00000394413.1:p.His672Tyr
ENST00000438045.5:c.1219C>T	ENSP00000410438.1:p.His407Tyr
ENST00000484913.5:n.2224C>T
ENST00000496420.5:n.1861C>T
NM_000466.2:c.2185C>T	NP_000457.1:p.His729Tyr
NM_001282677.1:c.2014C>T	NP_001269606.1:p.His672Tyr
NM_001282678.1:c.1561C>T	NP_001269607.1:p.His521Tyr
XM_005250433.3:c.436C>T	XP_005250490.1:p.His146Tyr
XR_242246.3:n.2281C>T
XM_017012319.2:c.436C>T	XP_016867808.1:p.His146Tyr
XR_001744808.2:n.1212C>T
XR_242246.5:n.2232C>T
NM_000466.3:c.2185C>T MANE Select	NP_000457.1:p.His729Tyr
NM_001282677.2:c.2014C>T	NP_001269606.1:p.His672Tyr
NM_001282678.2:c.1561C>T	NP_001269607.1:p.His521Tyr