Canonical Allele Identifier: CA368190447

Gene: PEX1

Linked Data

• gnomAD v4: 7-92511049-T-C
• MyVariant Identifiers: chr7:g.92140363T>C (hg19) ; chr7:g.92511049T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511049T>C , CM000669.2:g.92511049T>C	GRCh38
NC_000007.13:g.92140363T>C , CM000669.1:g.92140363T>C	GRCh37
NC_000007.12:g.91978299T>C	NCBI36
NG_008341.1:g.22483A>G
NG_008341.2:g.22483A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1484-2A>G MANE Select	ENSP00000248633.4:n.1484-2A>G
ENST00000248633.8:c.1484-2A>G	ENSP00000248633.4:n.1484-2A>G
ENST00000422866.1:c.385-2A>G
ENST00000428214.5:c.1484-2A>G	ENSP00000394413.1:n.1484-2A>G
ENST00000438045.5:c.518-2A>G	ENSP00000410438.1:n.518-2A>G
ENST00000476923.1:n.245-2A>G
ENST00000484913.5:n.1523-2A>G
NM_000466.2:c.1484-2A>G	NP_000457.1:n.1484-2A>G
NM_001282677.1:c.1484-2A>G	NP_001269606.1:n.1484-2A>G
NM_001282678.1:c.860-2A>G	NP_001269607.1:n.860-2A>G
XM_005250433.3:c.-183-2A>G	XP_005250490.1:n.-183-2A>G
XR_242246.3:n.1580-2A>G
XM_017012319.2:c.-183-2A>G	XP_016867808.1:n.-183-2A>G
XR_001744808.2:n.594-2A>G
XR_242246.5:n.1531-2A>G
NM_000466.3:c.1484-2A>G MANE Select	NP_000457.1:n.1484-2A>G
NM_001282677.2:c.1484-2A>G	NP_001269606.1:n.1484-2A>G
NM_001282678.2:c.860-2A>G	NP_001269607.1:n.860-2A>G