Canonical Allele Identifier: CA4341389

Gene: PEX1

Linked Data

• dbSNP Id: rs760189125
• ExAC: 7:92140407 G / C
• gnomAD v2: 7-92140407-G-C
• gnomAD v3: 7-92511093-G-C
• gnomAD v4: 7-92511093-G-C
• MyVariant Identifiers: chr7:g.92140407G>C (hg19) ; chr7:g.92511093G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511093G>C , CM000669.2:g.92511093G>C	GRCh38
NC_000007.13:g.92140407G>C , CM000669.1:g.92140407G>C	GRCh37
NC_000007.12:g.91978343G>C	NCBI36
NG_008341.1:g.22439C>G
NG_008341.2:g.22439C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1484-46C>G MANE Select	ENSP00000248633.4:n.1484-46C>G
ENST00000248633.8:c.1484-46C>G	ENSP00000248633.4:n.1484-46C>G
ENST00000422866.1:c.385-46C>G
ENST00000428214.5:c.1484-46C>G	ENSP00000394413.1:n.1484-46C>G
ENST00000438045.5:c.518-46C>G	ENSP00000410438.1:n.518-46C>G
ENST00000476923.1:n.245-46C>G
ENST00000484913.5:n.1523-46C>G
NM_000466.2:c.1484-46C>G	NP_000457.1:n.1484-46C>G
NM_001282677.1:c.1484-46C>G	NP_001269606.1:n.1484-46C>G
NM_001282678.1:c.860-46C>G	NP_001269607.1:n.860-46C>G
XM_005250433.3:c.-183-46C>G	XP_005250490.1:n.-183-46C>G
XR_242246.3:n.1580-46C>G
XM_017012319.2:c.-183-46C>G	XP_016867808.1:n.-183-46C>G
XR_001744808.2:n.594-46C>G
XR_242246.5:n.1531-46C>G
NM_000466.3:c.1484-46C>G MANE Select	NP_000457.1:n.1484-46C>G
NM_001282677.2:c.1484-46C>G	NP_001269606.1:n.1484-46C>G
NM_001282678.2:c.860-46C>G	NP_001269607.1:n.860-46C>G